Sunday 20 September 2015

Tyrosine Metabolic Disorders

Tyrosine Metab Disorders :-
Tyrosinemia type-1
Enzyme Defect - Fumaryl AcetoAcetate
hydrolase
Inheritence AR
Tyrosinemia type-2
Enzyme Defect - Tyrosine Transaminase
Inheritence - AR
Tyrosinemia type-3
Enzyme Defect - 4 Hydroxyphenylpyruvate
dioxygenase
Inheritence - AR
Hawkinsinuria - 4 HydroxyPhenylPyruvate
dioxygenase
Inheritence - AD
Alkaptonuria
Enzyme Defect- Homogentisic Acid oxidase
Inheritence - AR
Albinism
Enzyme Defect - Tyrosinase
Inheritence - AR
Disorders of PhenylAlanine Metab :-
PKU Type 1
Enzyme Def :- PhenylAlanine Hydroxylase
Inheritence AR
PKU Type 2
Enzyme Def :- Dihydropteridine reductase
Inheritence :- AR

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