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Inborn Errors of Metabolism



(A) Carbohydrate Metabolism Glycogen Storage DisordersDeficiency
Type I- Von gierke’sG 6 Phosphate
Type II- Pompe’s Alpha glucosidase
Type III Cori or ForbesDebranching enzyme
Type IVBranching enzyme
Type V- Mcardle’sMuscle phosphorylase
Type VI -Her’sHepatic phosphorylase

 
 
(B) Lipid Metabolism DiseaseDeficiency
Fabry’sAlpha galactoside- A(Ceramide trihexoside accumulates)
Niemann- Pick’sSphingomyelinase (RBC appear as foam cells)
Tay- Sach’sHexosaminidase A
Sandhoff diseaseHexosaminidase A and B
Krabbe LeukodystrophyGalacto Cerebrosidase
Metachromatic Leukodystrophy Arylsulfatase A
Gaucher diseaseGluco Cerebrosidase
Tangier DiseaseLipid Metabolism Disturbed (Low Alpha lipoprotein)

 
 
(C) Amino Acid Metabolism DiseaseDeficiency
PhenylketonuriaPhenylalanine Hydroxylase deficiency
AlkaptonuriaHomogentisic acid oxidase deficiency
Homo cystinuriaCystathion synthetase deficiency
Hartnup DiseaseDecreased trytophan Absorption increased excretion
Oasthouse diseaseMethionine malabsorption- fermented by intestinal bacteria and excreted. Oasthouse smell urine.

 
 
(D) Mucopolysaccharidoses DiseaseDeficiency
Hurler’s (I)Deficiency of Alpha iduronidase
Hunter’s (II)Deficiency of Iduronesulphate Sulphatase
Morquio’s (Type 4)N- Acetyl galactosamine Sulphate Sulphatase

 

(E) MiscellaneousDeficiency
GalactosemiaGalactose I Phopsphate uridyl transferase deficiency
AlbinismTyrosinase Deficiency
Lesch- Nyhan SyndromeHGPRT Deficiency ( Hypoxanthine guanine phosphoribosyl transferase)
Rate limiting step of catecholamines productionTyrosine hydroxylase
Rate limiting step of cholesterol productionHMG CoA reductase
Refsum’s disease Phytanic acid malabsorption treatment- stop vegetable intake
Orotic aciduria Pyrimidine metabolism is disturbed
Gout Purine metabolism is disturbed

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