lysosomal disease.docx
TRANSCRIPT
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Table 4Print
Lysosomal Storage Disorders
Disease (OMIM
Number)
Defective Proteins
or Enzymes
Defective
Genes
(Chromoso
mal
Location)
Comments
Mucopolysaccharidosis (MPS)
MPS I-H (Hurler's
syndrome; 607014)
MPS I-S (Scheie's
syndrome; 607016)
MPS I H/S (Hurler-
Scheie syndrome;
60701)
!-l-Iduronid"se I#$%
(4&16)
Onset: In I-H* 1st yr
In I-S* + yr
In I-H/S* , yr
Urine
metabolites:#erm"t"n
sul."te*he&"rin
sul."te
linical !eatures:orne"l
cloudin* sti.. oints*
contr"ctures* dysostosis
multi&le2* co"rse ."cies*
co"rse h"ir*
m"crolossi"*
or"nome"ly*
intellectu"l dis"3ility ith
reression* 5"l5ul"r he"rt
dise"se* he"rin "nd
5ision im&"irment*
inuin"l "nd um3ilic"l
herni"* slee& "&ne"*
hydroce&h"lus
Treatment: Su&&orti5e
c"re* enyme
re&l"cement* stem cell or
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3one m"rro
tr"ns&l"nt"tion
MPS II (Hunter's
syndrome; 000)
Iduron"te sul."te
sul."t"se
I#S (89:) Onset: :,4 yr
Urine
metabolites:#erm"t"n
sul."te*he&"rin
sul."te
linical !eatures:Simil"r
to Hurler's syndrome 3ut
milder "nd no corne"l
cloudin
In mild .orm* norm"l
intellience
In se5ere .orm*
&roressi5e intellectu"l
"nd &hysic"l dis"3ility*
de"th 3e.ore "e 1
Treatment: Su&&orti5e
c"re* stem cell or 3one
m"rro tr"ns&l"nt"tion
MPS III (S"n.ili&&o's
syndrome)
Onset: :,6 yr
Urine
metabolites:He&"rin
sul."te
linical !eatures:Simil"r
to Hurler's syndrome 3ut
ith se5ere intellectu"l
dis"3ility "nd mild
som"tic m"ni.est"tions
y&e III-% (::00) He&"r"n-S-sul."te
sul."mid"se
S
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Treatment: Su&&orti5e c"re
y&e III-# (::40) N -"cetyl-
lucos"minine-6-
sul."te sul."t"se
S
(1:914)
MPS I@ (Mor9uio's
syndrome
Onset: 1,4 yr
Urine metabolites:Aer"tin
sul."te; in I@-=* "lso
chondroitin 6-sul."te
linical !eatures:Simil"r
to Hurler's syndrome 3ut
ith se5ere 3one
ch"nes includin
odontoid hy&o&l"si";
&ossi3ly norm"l
intellience
Treatment: Su&&orti5e
c"re
y&e I@-% (:000)
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sul."te* chondroitin 4-* 6-
sul."te
linical !eatures:Simil"r
to Hurler's syndrome 3ut
re"ter 5"ri"tion in
se5erity
Treatment: Su&&orti5e
c"re* stem cell or 3one
m"rro tr"ns&l"nt"tion
MPS I8
(hy"luronid"se
de.iciency; 6014:)
Hy"luronid"se
de.iciency
HE%?1
(&:1-
&:1:)
Onset: 6 mo
Urine metabolites:>one
linical !eatures:=il"ter"l
so.t-tissue &eri"rticul"r
m"sses* dysmor&hic
.e"tures* short st"ture*
norm"l intellience
Treatment: >ot
est"3lished
Mucolipidosis (ML)
M? I See Si"lidosis ty&e I
(3elo)
M? II (I-cell dise"se;
::00)
N -%cetyllucos"minyl-
1-
&hos&hotr"ns.eer"se
c"t"lytic su3unit
P%
(49:1-9:)
Onset: 1st yr
Urine metabolites: >o
muco&olys"cch"rides
linical !eatures:Simil"r
to Hurler's syndrome 3ut
more se5ere; &resence o.
&h"se-dense inclusion
3odies in .i3ro3l"sts (I-
cells)
Treatment: Su&&orti5e
c"re
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M? III (&seudo-
Hurler's
&olydystro&hy)
>-"cetyllucos"minyl-
1-
&hos&hotr"ns.eer"se
Onset: :,4 yr
Urine metabolites:>one
linical !eatures:Simil"r
to M? II 3ut l"ter onset"nd &ossi3le sur5i5"l to
"dulthood
Treatment: Su&&orti5e
c"re
y&e III-% (::600) "t"lytic su3unit P%
(49:1-9:)
y&e III- (::60) Su3str"te-reconition
su3unit
P%<
(16&)
M? I@ See Si"loli&idosis
(3elo)
C C
Sphingolipidosis
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dystoni"* loss o.
&sychomotor milestones*
mild 5iscerome"ly "nd
3one "3norm"lity
Treatment: Su&&orti5e
c"re
y&e III ("dult ty&e;
:060)
Type """ onset: ,0 yr
Urine metabolites:>one
linical
!eatures: %nioFer"tom"
cor&oris di..usum*
s&ondyloe&i&hyse"ldys&l"si"* dys"rthri"*
cere3ell"r dys.unction; no
m"cul"r red s&ots or
5iscerome"ly
Treatment: Su&&orti5e
c"re
one
linical !eatures: #oll-liFe
."cies; cherry-red retin";
e"rly 3lindness;
e2"er"ted st"rtle
re.le2; initi"l hy&otoni"
.olloed 3y hy&ertoni";
&sychomotor ret"rd"tion
.olloed 3y reression*
seiures* "nd im&"ired
se"tin; de"th 3y "e
yr
In ty&e I* incre"sed
y&e I ("y-S"chs
dise"se; :7:00)
B-He2os"minid"se % HG8%
(19:-
9:4)
y&e II (S"ndho..'s
dise"se; :600)
B-He2os"minid"se = HG8=
(91)
y&e III (u5enile
ty&e)
B-He2os"minid"se % C
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.re9uency in %shFen"i
es
iem"nn-PicF
dise"se (see "lso
>iem"nn-PicF
dise"se ty&es "nd
#* 3elo)
S&hinomyelin"se SMP#1
(11&14-
&11)
y&e % (:7:00) Onset: 6 mo
linical !eatures:P cells)*
de"th 3y "e yr
Treatment: Su&&orti5e
c"re* stem cell or 3one
m"rro tr"ns&l"nt"tion
y&e = (607616) Onset: @"ri"3le
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linical !eatures: Much
milder sym&toms* no
neuroloic in5ol5ement*
sur5i5"l to "dulthood
Incre"sed .re9uency in
%shFen"i es
Treatment: Su&&orti5e
c"re* stem cell or 3one
m"rro tr"ns&l"nt"tion
one
linical
!eatures:He&"tos&lenom
e"ly* osteolytic lesions
ith 3one &"in* "5"scul"r
necrosis o. the .emor"l
he"d* 5erte3r"l
com&ression*throm3ocyto&eni"*
"nemi"
Incre"sed .re9uency in
%shFen"i es
Treatment: Su&&orti5e
c"re* s&lenectomy*
enyme re&l"cement*
3one m"rro or stem cell
tr"ns&l"nt"tion
y&e II (in."ntile .orm;
:000)
Onset: In."ncy
Urine metabolites:>one
linical !eatures:In."ntile
hydro&s*
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he&"tos&lenome"ly*
dys&h"i"* 3one lesions*
hy&ertonicity*
&seudo3ul3"r &"lsy*
l"ryne"l s&"sm*
ichthyosis*
de5elo&ment"l del"y*
hy&ers&lenism* de"th 3y
"e : yr
Treatment: Su&&orti5e
c"re
y&e III (u5enile
.orm* >orr3ottni"n
ty&e; :1000)
Onset: 4, yr
Urine metabolites:>one
linical !eatures:Simil"r
to ty&e II e2ce&t milder*
&ossi3le sur5i5"l into
"dulthood
Treatment: Su&&orti5e
c"re
J"r3er's dise"se(li&or"nulom"tosis;
::000)
er"mid"se %S%H (&::-&:1)
Onset: Jirst eeFs o. li.e
Urine
metabolites:er"mide
linical
!eatures:?i&or"nulom"t
osis* &eri"rticul"r
su3cut"neous nodules*
irrit"3ility* ho"rse cry*
&sychomotor "nd roth
del"y* res&ir"tory
insu..iciency* histiocytosis
in multi&le tissues*
ne&hro&"thy*
he&"tos&lenome"ly*
cherry-red m"cul"r s&ot
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Milder 5"ri"nts sometimes
di5ided into 7 su3ty&es
"ccordin to se5erity
Treatment: Su&&orti5e
c"re
J"3ry's dise"se
(0100)
rihe2osylcer"mide !-
"l"ctosid"se
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• ?"te in."ntile
.orm
• u5enile .orm
• %dult .orm
• Pseudode.icien
cy .orm
Jor "dult .orm* "ny "e
".ter &u3erty
Urine
metabolites:Sul."tides
linical !eatures: K&tic
"tro&hy* "ll 3l"dder
dys.unction* urin"ry
incontinence* hy&otoni"*
"it distur3"nce*
hy&ore.le2i" .olloed 3y
hy&erre.le2i"* 3ul3"r
&"lsies* "t"2i"* chore"*
demyelin"tion "ndde5elo&ment"l
reression* incre"sed
SJ &rotein
In "dult .orm* "lso
schio&hreni"-liFe
sym&toms
&seudode.iciency
ch"r"cteried 3y mild
decre"se in enyme
"cti5ity ithout neuroloic
deener"tion
Treatment: Su&&orti5e
c"re* consider"tion o.
3one m"rro or stem cell
tr"ns&l"nt"tion
Mucosul."tidosis
(multi&le sul."t"sede.iciency; :7::00)
Sul."t"se-modi.yin
."ctor-1
S$MJ1
(&:6)
Onset: In."ncy
Urine
metabolites:Sul."tides*
muco&olys"cch"rides
linical !eatures:Simil"r
to l"te in."ntile .orm o.
met"chrom"tic
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leuFodystro&hy* &lus
ichthyosis "nd dysostosis
multi&le2
Treatment: Su&&orti5e
c"re
Ar"33e's dise"se
(:4:00)
•
• In."ntile .orm
• ?"te in."ntile
.orm
• u5enile .orm
• %dult .orm
one
linical !eatures:
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Urine
metabolites:Sul."tides
linical !eatures: In
s"&osin = de.iciency*
.e"tures simil"r to those
o. met"chrom"tic
leuFodystro&hy
In s"&osin de.iciency*
.e"tures simil"r to those
o. iem"nn-PicF
dise"se* ty&es %
"nd =* "3o5e)
Onset: Hihly 5"ri"3le
(e"rly or l"te in."ncy*
"dolescence* "dulthood)
Urine metabolites:>one
linical !eatures:@ertic"l
"e &"lsy*
he&"tos&lenome"ly*
neon"t"l "undice*
dys&h"i"* hy&otoni"
.olloed 3y s&"sticity*
seiures* cere3ell"r
"t"2i"* dys"rthri"*
&sychomotor del"y "nd
y&e 1/y&e #
((:7::0)
>P1 &rotein >P1
(1911-91:)
y&e : (6076:) G&ididym"l secretory
&rotein 1 (HG1;
>P: &rotein)
>P:
(149:4)
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deener"tion* &sychosis
"nd 3eh"5ior"l &ro3lem*
.et"l "scites* .o"m cells
"nd se"-3lue histiocytes
"s in >iem"nn-PicF
dise"se ty&es % "nd =?ysosom"l "cid li&"se
de.iciency (:7000)
•
• olm"n's
dise"se
• holesteryl
ester stor"edise"se(GS#)
?ysosom"l "cid li&"se ?IP% (109:4-
9:)
Onset: In olm"n's
dise"se* in."ncy
In GS#* 5"ri"3le
Urine metabolites:>one
linical !eatures:
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Treatment: Jor olm"n's
dise"se* no e..ecti5e
ther"&y
Jor GS#* st"tins &lus "
lo-cholesterol diet
hel&.ul
ere3rotendinous
2"nthom"tosis
(cholest"nol
li&idosis; :1700)
Sterol :7-hydro2yl"se EP:7%
(:9-9ter)
Onset: %dolescence
Urine
metabolites:Gle5"ted 7-
!-hydro2yl"ted 3ile
"lcohol
linical !eatures:u5enilec"t"r"cts* tendon "nd
sFin 2"nthom"s*
2"nthel"sm"* .r"ctures*
"therosclerosis*
dementi"* s&in"l cord
&"resis* cere3ell"r "t"2i"*
de5elo&ment"l dis"3ility*
&seudo3ul3"r &"r"lysis*
leuFodystro&hy*&eri&her"l neuro&"thy
Treatment:henodeo2ych
olic "cid* st"tins
>euron"l ceroid
li&o.uscinosis
Onset: In in."ntile .orm* 6,
1: mo
In l"te in."ntile .orm* :,4
yr
In u5enile .orms (includin
?>)* 4,10 yr
In "dult .orm* :0, yr
In 5"ri"nt in."ntile .orms*
4,7 yr
In."ntile .orm (?>1*
S"nt"5uori-H"lti"
dise"se; :670)
P"lmitoyl-&rotein
thioester"se-1
PP1 (1&:)
?"te in."ntile .orm
(?>:* "nsFy-
=ielschosFy
dise"se; :0400)
?ysosom"l &e&st"tin-
insensiti5e &e&tid"se
?>:
(11&1)
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In &roressi5e e&ile&sy
.orm* ,10 yr
Urine metabolites:>one
linical !eatures: In
in."ntile "nd l"te in."ntile
.orms* de5elo&ment"l
del"y* microce&h"ly* o&tic
"nd cere3r"l "tro&hy*
retin"l deener"tion*
3lindness* .le2ion
contr"ctures* hy&otoni"*
"t"2i"* myoclonus*
seiures* loss o. s&eech*
hy&ere2cit"3ility*
u5enile .orm (?>*
="tten dise"se*
@ot-S&ielmeyer
dise"se; :04:00)
?ysosom"l
tr"nsmem3r"ne
?> &rotein
?>
(16&1:1)
%dult .orm (?>4*
Au.s' dise"se;
:0400)
P"lmitoyl-&rotein
thioester"se-1
PP1 (1&:)
@"ri"nt l"te in."ntile
.orm* Jinnish ty&e
(?>; :671)
?ysosom"l
tr"nsmem3r"ne
?> &rotein
?>
(19:1-
9:)
@"ri"nt l"te in."ntile
.orm (?>6;
60170)
r"nsmem3r"ne ?>6
&rotein
?>6
(19:1-
9:)
Proressi5e e&ile&sy
ith intellectu"l
dis"3ility (60014)
r"nsmem3r"ne ?>
&rotein
?> (&ter-
&::)
?> (600) C C
Oligosaccharidosis and related disorders
Si"lidosis (:60) >eur"minid"se 1
(si"lid"se)
>G$1
(6&:1)y&e I (cherry-red
m"cul"r s&ot-
myoclonus
syndrome* mild
.orm)
Onset: ,: yr
Urine
metabolites:Incre"sed
si"lylolios"cch"rides
linical !eatures:herry-
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red m"cul"r s&ot*
insidious 5ision loss*
c"t"r"cts* &roressi5e
myoclonus "nd "t"2i"*
norm"l intellience*
incre"sed dee& tendon
re.le2
Treatment: Su&&orti5e
c"re
y&e II (conenit"l*
in."ntile* u5enile*
"nd childhood
.orms)
Onset: In conenit"l .orm*
in utero
In in."ntile .orm* 3irth to 1:
mo
In u5enile "nd childhood
.orms* :,:0 yr
Urine
metabolites:Incre"sed
si"lylolios"cch"rides
linical !eatures: %ll o.
.e"tures o. ty&e I &lus
co"rse ."cies* hy&otoni"*
he&"tome"ly* "scites*
inuin"l herni"* roth
del"y* muscle "stin*
l"rynom"l"ci"*
dysostosis multi&le2
Treatment: Su&&orti5e
c"re
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de.iciency; :640)
•
• >eon"t"l .orm
• ?"te in."ntile
.orm
• u5enile/"dult
.orm
ide 5"ri"3ility
Urine
metabolites:Gle5"ted
si"lylolios"cch"rides 3ut
no .ree si"lic "cid
linical !eatures:o"rse
."cies* corne"l cloudin*
cherry-red m"cul"r s&ot*
intellectu"l dis"3ility*
seiures* dysostosis
multi&le2* he"rin loss*
hem"niom"s* 5"l5ul"r
he"rt dise"se
Treatment: Su&&orti5e
c"re
Si"loli&idosis
(&hos&holi&idosis;
mucoli&idosis I@*
=erm"n dise"se;
::60)
MK?>1
(1&1-
&1:)
Onset: 1st yr
Urine metabolites: >o
muco&olys"cch"rides
linical !eatures:Se5ere
(=erm"n dise"se) "nd
mild .orms
#e5elo&ment"l del"y*
corne"l o&"cities* 5isu"l
de.iciency* str"3ismus*
hy&otoni"* incre"sed
dee& tendon re.le2es; no
r"dior"&hic sFelet"l
"3norm"lity*
m"croce&h"ly* or
or"nome"ly
Treatment: Su&&orti5e
c"re
M"nnosidosis Onset: In ty&e I* ,1: mo
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In ty&e II* 1,4 yr
Urine
metabolites:M"nnose-
rich olios"cch"rides
linical !eatures:o"rse
."cies* m"croce&h"ly*
m"crolossi"* c"t"r"cts*
ini5"l hy&ertro&hy*
sliht
he&"tos&lenome"ly*
dysostosis multi&le2*
hy&otoni"* he"rin loss*
3oed .emur*&"ncyto&eni"* recurrent
res&ir"tory in.ections*
immunode.iciency "nd
"utoimmunity*
de5elo&ment"l dis"3ilities
Treatment: Su&&orti5e
c"re* consider"tion o.
3one m"rro or stem cell
tr"ns&l"nt"tion
!-M"nnosidosis
(:400)* ty&e I
(se5ere) or II (mild)
!-#-M"nnosid"se M%>:=1
(1cen-
91:)
B-M"nnosidosis
(:410)
B-#-M"nnosid"se M%>=%
(49::-9:)
Onset: 1,6 yr
Urine
metabolites:#is"cch"rid
es* m"nnosyl-(1-4)-N -
"cetyllucos"mine*he&"ri
n
sul."te
linical !eatures:o"rse
."cies* de".ness* del"yed
s&eech* hy&er"cti5ity*
enit"l "nioFer"tom"*
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tortuous conuncti5"l
5essels
Treatment: Su&&orti5e
c"re* consider"tion o.
3one m"rro or stem cell
tr"ns&l"nt"tion
Jucosidosis (:0000)
•
• y&e I (se5ere
in."ntile .orm)
•
• y&e II (mild
.orm)
!-?-Jucosid"se J$%1
(1&4)
Onset: In ty&e I* ,1 mo
In ty&e II* 1,: yr
Urine
metabolites:Klios"cch"
rides
linical !eatures: Short
st"ture* roth del"y*
co"rse ."cies*
m"crolossi"*
c"rdiome"ly* recurrent
res&ir"tory in.ections*
dysostosis multi&le2*
herni"s*
he&"tos&lenome"ly*
"nioFer"tom"*
"nhidrosis "nd ele5"ted
se"t chloride*
de5elo&ment"l dis"3ility*
hy&otoni" ch"nin to
hy&ertoni"* cere3r"l
"tro&hy* seiures* s&"stic
9u"dri&lei"* 5"cuol"ted
lym&hocytes
Most &"tients .rom It"ly or
southestern $S
Treatment: Su&&orti5e
c"re* consider"tion o.
3one m"rro or stem cell
tr"ns&l"nt"tion
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%s&"rtyllucos"minur
i" (:0400)
N -
%s&"rtyllucos"minid
"se
%
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Fy&hoscoliosis* 5erte3r"l
com&ression* c"r&ot"rs"l
osteolysis* "nFylosis o.
sm"ll oints o. .eet*
di..use thicFened sFin*
hy&er&iment"tion*
hy&ertrichosis
Treatment: Su&&orti5e
c"re
Schindler's dise"se N -%cetyl-
"l"ctos"minid"se
!->%
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linical !eatures:o"rse
."cies* de".ness*
conuncti5"l "nd retin"l
5"scul"r tortuosity*
"nioFer"tom" cor&oris
di..usum* tel"niect"si"*
lym&hedem"* mild
intellectu"l im&"irment*
&eri&her"l "2on"l
neuro&"thy
Treatment: Su&&orti5e
c"re
y&e III (intermedi"te
.orm; 60:41)
Onset: hildhood
Urine
metabolites:Klios"cch"
rides "nd K-linFed
si"lo&e&tides
linical
!eatures:Intermedi"te
3eteen ty&es I "nd II;
5"ri"3le "nd r"nin .romseiures "nd moder"te
&sychomotor ret"rd"tion
to mild "utistic .e"tures
ith s&eech "nd
l"nu"e del"y
Treatment: Su&&orti5e
c"re
onenit"l disorderso. N -lycosyl"tion*
ty&e I (&re-
-
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neuroloic "nd
neuroloic-
multi5iscer"l .orms;
:1:06)
e-: (16&1-
&1:)
hih-"rched or cle.t &"l"te*
str"3ismus* retinitis
&imentos"* &eric"rdi"l
e..usion* c"rdiomyo&"thy*
he&"tome"ly* 5omitin*
di"rrhe"* li5er .i3rosis*
&rim"ry o5"ri"n ."ilure*
ren"l cysts* ne&hrosis*
&ro2im"l tu3ulo&"thy*
Fy&hosis* oint
contr"ctures* ecto&ic ."t
&"ds* or"ne-&eel sFin*
muscle e"Fness*
hy&otoni"* stroFeliFe
e&isodes* seiures*
oli5o&ontine hy&o&l"si"*
&eri&her"l neuro&"thy*
hy&othyroidism*
hy&erinsulinism* ."ctor 8I
de.iciency* "ntithrom3in III
de.iciency*
throm3ocytosis*
decre"sed I% "nd I
-
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M"nnosyltr"ns.er"se (9::)
#< I (600) $#P-%cLdolichyl-
P >%c
-
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In."ntile si"lic "cid
stor"e disorder
(:6:0)
>" &hos&h"te
cotr"ns&orter
S?17%
(6914-91)
Onset: %t 3irth
Urine
metabolites:Incre"sed
.ree si"lic "cid
linical !eatures:
-
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e&imer"se/N -
"cetylm"nnos"mine
Fin"se
Urine
metabolites:Incre"sed
.ree si"lic "cid
linical !eatures:o"rse
."cies ith norm"l
roth* de5elo&ment"l
del"y* slee& "&ne"*
hy&o&l"stic ni&&les*
he&"tos&lenome"ly*
inuin"l herni"s*
ener"lied hirsutism*
seiures
Treatment: Su&&orti5ec"re
>euron"l ceroid
li&o.uscinosis
(?>* ?>*
?>6* ?>)
See Kther li&idoses*
"3o5e
ystinosis ystinosin (lysosom"l
cystine tr"ns&orter)
>S
(17&1)
In."ntile ne&hro&"thic
.orm (:100)
Onset: 1st yr
Urine metabolites:Den"l
J"nconi syndrome
linical !eatures:
-
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myo&"thy* dys&h"i"*
cere3r"l "tro&hy* norm"l
intellience 3ut
neuroloic deterior"tion
in lon-term sur5i5ors
ystine "ccumul"tion
throuhout
reticuloendotheli"l
system* =* "nd
corne"
Treatment:De&l"cement
ther"&y .or J"nconi
syndrome* ren"ltr"ns&l"nt .or ."ilure*
cyste"mine or"lly or "s
eyedro&s* roth
hormone
?"te-onset u5enile
.orm (:100)
Onset: 1:,1 yr
Urine metabolites:Den"l
J"nconi syndrome
linical !eatures:Simil"r
to in."ntile .orm 3ut
milder
Treatment: Simil"r to th"t
.or in."ntile .orm
%dult non-
ne&hro&"thic .orm
(:170)
Onset: G"rly teens to
"dulthood
Urine metabolites:Den"l
J"nconi syndrome
linical !eatures:Simil"r
to in."ntile .orm 3ut no
ren"l disorders
Treatment: yste"mine
or"lly or "s eyedro&s*
-
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roth hormone
Other lysosomal disorders
Pycnodysostosis
(:600)
"the&sin A SA
(19:1)
Onset: G"rly childhood
Urine metabolites:>one
linical !eatures: Short
st"ture* .ront"l "nd
occi&it"l &rominence*
del"yed closure o.
"nterior .ont"nel*
micron"thi"* n"rro
&"l"te* del"yed eru&tion
"nd &ersistence o.deciduous teeth*
hy&odonti"* "&l"si" or
hy&o&l"si" o. cl"5icles*
osteosclerosis*
susce&ti3ility to .r"cture*
scoliosis* s&ondylolysis*
3r"chyd"ctyly* roo5ed
n"ils
Treatment: Su&&orti5e
c"re* roth hormone
&ossi3ly hel&.ul
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."ilure* de5elo&ment"l
dis"3ilities
Treatment: Su&&orti5e
c"re