recognize iem in a neonate with non- specific signs and symptoms make use of simple lab tests in...
TRANSCRIPT
![Page 1: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/1.jpg)
DR.AHMED HOZAYEN
INBORN ERRORS OF
METABOLISM
![Page 2: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/2.jpg)
Recognize IEM in a neonate with non-specific signs and symptoms
Make use of simple lab tests in the diagnosis of IEM
Initial management of life threatening conditions associated with IEM
Objectives
![Page 3: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/3.jpg)
Inborn Errors of Metabolism
3
An inherited enzyme deficiency leading to the disruption of normal body metabolism
Accumulation of a toxic substrate (compound acted upon by an enzyme in a chemical reaction)
Impaired formation of a product normally produced by the deficient enzyme
![Page 4: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/4.jpg)
4
Affects amino acid & protein, carbohydrate, and lipid metabolism.
Most disorders are autosomal recessive in transmission
Most disorders are evident at or soon after birth.
Early detection and treatment are essential to the prevention of irreversible cognitive impairment and early death
![Page 5: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/5.jpg)
What is a metabolic disease?
5
substrate excess
toxic metabolite
A
D
B C product deficiency
![Page 6: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/6.jpg)
Disorders of: Amino acids Carbohydrates Fatty acid Lysosomal and peroxisomal function Mitochondrial Organic acids
Categories of IEM
![Page 7: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/7.jpg)
Metabolic Diseases Can Grouped as
Defects of Carbohydrates-Glycogen storage disease(GSD), Galactosemia,
Defects of amino acids-Phenylketonuria(PKU), Alkaptonuria,Urea cycle defects(UCDs).
Organic acidemias-isovaleric acidemia, propoinic acidemia(PPA), methylmalonic acidemia(MMA), maple syrup urine disease(MSUD).
![Page 8: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/8.jpg)
Defects of lipids-Mitochondrial fatty acid oxidation defects, peroxisomal disorders ,lysosomal disorders ,mucopolysaccharidoses.
Defects of purines and pyrimidines-Lesh-nyhan syndrome
Miscellaneous –wilson disease,alpha-1-anti trypsin deficiency.
![Page 9: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/9.jpg)
Diagnosis/ Newborn Screening
◦ Nonselective screening – screening all newborns for a limited number of common inborn errors
◦ Selective – testing of an individual known to be at increased risk (e.g. sibling)
◦ Tandem mass spectroscopy – allows clinicians to screen for > 30 disorders
![Page 10: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/10.jpg)
Clinical manifestations
◦Usually appear 24 hours or more after birth, attributed to ingestion of precursor substrate of defective enzyme
◦CNS symptoms, poor growth, failure to thrive, developmental delays, specific neurological deficits
◦May have blatant signs (i.e. unusual odor)
![Page 11: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/11.jpg)
![Page 12: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/12.jpg)
Abnormal urine odor
![Page 13: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/13.jpg)
Lens dislocation : Sulfite oxidase deficiency
Miscellaneous
![Page 14: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/14.jpg)
Skin changes : Biotinidase deficiency
![Page 15: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/15.jpg)
Peroxisomal disorders : Zellweger syndromeLarge fontanelle prominent forehead flat nasal bridge epicanthal folds hypoplastic supraorbital
ridges
Dysmorphic Features
![Page 16: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/16.jpg)
Pyruvate dehydrogenase deficiencyEpicanthal folds flat nasal bridge small nose with
anteverted flared alae nasi
long philtrum
Dysmorphic Features
![Page 17: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/17.jpg)
Glutaric aciduria type IIMacrocephaly high forehead flat nasal bridge short anteverted nose ear anomalies hypospadias rocker-bottom feet
Dysmorphic Features
![Page 18: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/18.jpg)
Cholesterol biosynthetic defects Smith-Lemli-Opitz
syndrome: Epicanthal folds, flat nasal
bridge, toe 2/3 syndactyly, genital abnormalities, cataracts
Dysmorphic Features
![Page 19: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/19.jpg)
Congenital disorders of glycosylation: Inverted nipples, lipodystrophy
Lysosomal storage disorders: Hurler-like phenotype
Dysmorphic Features
![Page 20: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/20.jpg)
Clinical manifestations – diagnosis◦ Laboratory studies ◦ Routine
Hypoglycemia, acid-base balance, hyperammonemia, ketosis
◦ Specialized studies Require special lab Directed analysis for amino acids or organic
acids
![Page 21: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/21.jpg)
© 2007 Thomson - Wadsworth
![Page 22: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/22.jpg)
Approaches to Treatment
In most cases, treatment needs to be instituted empirically without a specific diagnosis.
The metabolic screen helps to broadly categorize the patient’s IEM (e.g. urea cycle defect, organic academia,
congenital lactic acidosis etc), on the basis of which, empirical treatment can be instituted
![Page 23: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/23.jpg)
Aims of treatment 1. To reduce the formation of toxic metabolites by
decreasing substrate availability (by stopping feeds and preventing endogenous catabolism)
2. To provide adequate calories. 3. To enhance the excretion of toxic metabolites. 4. To institute co-factor therapy for specific disease and
also empirically if diagnosis not established. 5. Supportive care- -Treatment of seizures (avoid sodium valproate – may increase ammonia levels), -Maintain euglycemia and normothermia, -Fluid, electrolyte & acid-base balance, -Treatment of infection, -Mechanical ventilation if required.
![Page 24: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/24.jpg)
Management of hyperammonemia: 1) Discontinue all feeds. Provide adequate calories
by intravenous glucose and lipids. Maintain glucose infusion rate
8-10mg/kg/min. Start intravenous lipid 0.5 g/kg/day (up to 3 g/kg/day). After
stabilization gradually add protein 0.25 g/kg till 1.5 g/kg/day.
2) Dialysis is the only means for rapid removal of ammonia, and hemodialysis is more effective and faster than peritoneal dialysis. Exchange transfusion is
not useful.
![Page 25: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/25.jpg)
3) Alternative pathways for nitrogen excretion-:
-Sodium benzoate. -Sodium phenylbutyrate -L-arginine (oral or IV) -L-carnitine (oral or IV) 4) Supportive care: Treatment of
sepsis,seizures,ventilation.
![Page 26: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/26.jpg)
1. Determine if there is metabolic acidosis 2. Is anion gap >16? 3. Is there hypoglycemia? 4. Is there hyperammonemia?
◦ Within 24 HOL?◦ After 24 HOL?
![Page 27: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/27.jpg)
Copyright ©1998 American Academy of Pediatrics
![Page 28: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/28.jpg)
![Page 29: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/29.jpg)
Healthy NB rapidly ill, ◦Ketoacidosis, poor feeding
Vomiting, dehydration Hypotonia, lethargy Tachypnea, seizures Coma, unusual odors
Organic acidemia
![Page 30: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/30.jpg)
Labs: Urine organic acids Ketonuria (in the NB)- pathognomonic of
IEM Neutropenia, thrombocytopenia +/- hyperammonemia Abnormal acylcarnitine
Organic acidemia
![Page 31: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/31.jpg)
Treatment: Stabilize Get rid of organic acid intermediates, and
ammonia- hemodialysis Carnitine After stabilization, may resume oral feeds Consult dietitian, and metabolic specialist
Organic acidemia
![Page 32: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/32.jpg)
No acidosis (respiratory alkalosis) No ketones (unlike organic acidemia) No hypoglycemia But with hyperammonemia
Urea cycle disorder
![Page 33: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/33.jpg)
Treatment: Remove ammonia Hydration with D10 + electrolytes D/C all protein x 24 hours—calories from
CHO and fat Na phenylacetate/Na benzoate Give arginine Protein restriction for life
Urea cycle disorder
![Page 34: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/34.jpg)
Prognosis: guarded Even with Treatment, many will die Definitive treatment: liver transplant
Urea cycle disorder
![Page 35: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/35.jpg)
Galactocemia
An inborn error of carbohydrate metabolism in which the hepatic enzyme (galactose-1-phosphate uridyl transferase), GALK1 or GALE, which normally converts galactose into glucose is absent.
Autosomal recessive pattern Incidence It occurs in approximately 1 out of
every 60,000
![Page 36: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/36.jpg)
Dietary Lactose Galactose Galactose 1-Phosphate Glucose
BRAINMental retardation
LIVER Jaundice Hetaptomegaly Cirrhosis
EYEScataracts
Galactocemia: How does it happen?
![Page 37: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/37.jpg)
Three forms of galactosemia
Galactose-1 phosphate uridyl transferase deficiency (classic galactosemia, the most common and most severe form)- (GALT) Type I
Deficiency of galactose kinase – (GALK1)Type II
Deficiency of galactose-6-phosphate –epimerase (GALE)-Type III
![Page 38: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/38.jpg)
Jaundice, vomiting poor feeding infections Failure to thrive hepatomegaly Speech disabilities, mental retardation
Classic galactosemia – type I
![Page 39: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/39.jpg)
Galactosemia clinical pictures
![Page 40: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/40.jpg)
Clinical pictures of Galactosemia Type II
Mild Cataract in the
infant
![Page 41: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/41.jpg)
How is treated galactosemia?
The only way to treat galactosemia is through dietary restrictions
from the first days of life No brest feeding Soya- based formula
• The newborn with questionable results on newborn screening should continue to be treated with soy-based formula pending definitive results of confirmatory testing.
![Page 42: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/42.jpg)
Galactosemia screening Why? If unscreened and untreated,
galactosemia is a life-threatening disorder. When? Neonatal period: 4th day
How? Screening of every neonates, followed by confirming tests. Thereby, affected infants are treated before they become ill.
![Page 43: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/43.jpg)
Phenylketonuria (PKU)
![Page 44: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/44.jpg)
Phenylketonuria is a genetic disorder where the body’s enzyme, phenylalanine hydroxylase ,is missing or malfunctioning so that it cannot properly break down the amino acid, phenylalanine .
![Page 45: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/45.jpg)
Mental Retardation Seizures Microcephaly (small head size) Skin rashes Stunted growth Hyperactivity “Musty or mousy” body odor from the
excess phenylalanline Fair skin, hair, and eyes (phenylalanine is
linked to melanin production)
Symptoms
![Page 46: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/46.jpg)
PKU is usually diagnosed after birth with a blood test taken from the infant’s heel or the crook of their arm.◦ If there are abnormal amounts of phe, then
further tests (blood and urine) are taken to ensure that the child has PKU.
Another option of diagnosis is through the chorionic villus sampling (CVS) process.
Treatment & Prevention
![Page 47: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/47.jpg)
TreatmentOnce diagnosed, babies are fed diets containing
protein without phenylalanine for the first 7-10 days.Special infant formula called Lofenalac
Recently, there’s been a special medical (pill) formula discovered for PKU patients called Kuvan.
It’s possible to have a wide range of PKU, from mild to severe, but it’s suggested to stick to a diet regiment for life.
Treatment & Prevention
![Page 48: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/48.jpg)
There’s usually a general list of foods that should not be consumed for PKU patients like:◦ Dairy
Milk, eggs, Cheese◦ Nuts◦ Beans◦ Peas◦ Meat (Poultry, beef, pork, duck etc.)◦ Chocolate◦ the sweetener aspartame can act as poisons for
people with phenylketonuria
Treatment & Prevention
![Page 49: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/49.jpg)
Prevention:Unfortunately, if PKU is already diagnosed in an infant, there are no preventive measures one can take for their child to not have PKU.If a pregnant individual has PKU, then she’s able to prevent her child from PKU symptoms if she follows a diet low in protein.
Treatment & Prevention
![Page 50: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/50.jpg)
50
Hurler syndrome type I
![Page 51: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/51.jpg)
51
Causes of the Hurler syndrome
Inherited as an autosomal recessive trait caused by mutations in the IDU Agene
(4p16.3) Metabolic defect: inability
◦The body's to make an enzyme: lysosomal alpha-L-iduronase
![Page 52: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/52.jpg)
52
incidence & and risk factors
Approximately 1 in 150,000 infants are affected
Newborn infants with this defect appear normal at birth
By the end of the first year, signs of impending problems begin to develop
![Page 53: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/53.jpg)
© 2007 Thomson - Wadsworth
![Page 54: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/54.jpg)
Coarse facial features (86.4%) Corneal clouding (70.9%) Heaptomegaly (70.0%) Kyphosis/gibbus (70.0%) Hernias (58.9%) Airway-related symptoms, such as sleep
disturbances/snoring (51.6%) Splenomegaly (50.9%) Cardiac valve abnormalities (48.9%) Cognitive impairment (46.4%) Dystosis multiplex (43.6%)
© 2007 Thomson - Wadsworth
![Page 55: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/55.jpg)
© 2007 Thomson - Wadsworth
![Page 56: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/56.jpg)
56
Hurler syndrome (type I)
![Page 57: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/57.jpg)
57
Key Symptom Images
Claw hand
Coarse facial features
Corneal clouding
Hernia
Mucopolysaccharidosis I (MPS I) Disease (Hurler, Hurler-Scheie, Scheie Syndromes)
![Page 58: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/58.jpg)
58
Hunter syndrome type II
(Sulpho-idoronide sulphatase deficiency )
![Page 59: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/59.jpg)
59
Hunter syndrome type II
![Page 60: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/60.jpg)
60
X-linkedCoarse, thick, facial featuresProgressive stiffness decreased mental development HepatomegalySplenomegalyAbnormal bone x-rays
Hunter syndrome type II
![Page 61: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/61.jpg)
Thank you
![Page 62: Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life](https://reader035.vdocuments.us/reader035/viewer/2022062500/5697bfc81a28abf838ca8383/html5/thumbnails/62.jpg)