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Table of Genetic Disorders

4
Congenit al Fruct oseInt olerance
Carbohydrat eMet abolismDef ect Aut osomal Recessive.
Aldolase B
def iciency------> buildup of
Fruct ose-1-Phosphat e
int issues ------> inhibit glycogenolysis andgluconeogenesis.Severe
hypoglycemia
.Treat ment :
Remove f ruct ose f rom diet .

Galact osemia
Carbohydrat eMet abolismDef ect Aut osomal Recessive. Inabilit y t o convert galact ose t o glucose ------>
accumulat ion of galact ose in many t issues.(1) Classic f orm:
Galact ose-1-phosphat eUridylt ransf erase
def iciency.(2) Rarer f orm:
Galact okinase
def iciency.Failure t o t hrive,inf ant ile cat aract s,ment al ret ardat ion.Progressive hepat icf ailure,
cirrhosis
,deat h.Galact okinase-def iciency: inf ant ilecat aract s areprominent .Treat ment : in eit hercase,
removegalact ose f rom diet .

Angelman Syndrome
ChromosomalDelet ion of part of short arm of
chromosome15, mat ernal copy
. An example of
genomicimprint ing.
Ment al ret ardat ion,at axic gait , seizures.
Inappropriat elaught er
.
Cri du Chat Syndrome
Chromosomal
5p-
, delet ion of t he long arm of chromosome5."Cry of t he cat ."Severe ment alret ardat ion,microcephaly, cat -
likecry. Low birt h-weight ,round-f ace,hypert elorism (wide-set eyes), low-set ears, epicant half olds.
Down Syndrome

(Trisomy 21)
Chromosomal
Trisomy 21,
wit h risk increasing wit hmat ernal age. Familial f orm (no age-associat ed risk) is t ranslocat ion
t (21,x)
in aminorit y of cases.Most common causeof ment al ret ardat ion.Will see epicant half olds,
simian crease
,
brushf ield spot s
ineyes. Associat edsyndromes:
congenit al heart disease
,
leukemia
,
premat ure
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