Paediatrics - Inborn Errors of Metabolism

(A) Carbohydrate Metabolism Glycogen Storage Disorders Deficiency
Type I- Von gierke’s G 6 Phosphate
Type II- Pompe’s Alpha glucosidase
Type III Cori or Forbes Debranching enzyme
Type IV Branching enzyme
Type V- Mcardle’s Muscle phosphorylase
Type VI -Her’s Hepatic phosphorylase


(B) Lipid Metabolism Disease Deficiency
Fabry’s Alpha galactoside- A(Ceramide trihexoside accumulates)
Niemann- Pick’s Sphingomyelinase (RBC appear as foam cells)
Tay- Sach’s Hexosaminidase A
Sandhoff disease Hexosaminidase A and B
Krabbe Leukodystrophy Galacto Cerebrosidase
Metachromatic Leukodystrophy Arylsulfatase A
Gaucher disease Gluco Cerebrosidase
Tangier Disease Lipid Metabolism Disturbed (Low Alpha lipoprotein)


(C) Amino Acid Metabolism Disease Deficiency
Phenylketonuria Phenylalanine Hydroxylase deficiency
Alkaptonuria Homogentisic acid oxidase deficiency
Homo cystinuria Cystathion synthetase deficiency
Hartnup Disease Decreased trytophan Absorption increased excretion
Oasthouse disease Methionine malabsorption- fermented by intestinal bacteria and excreted. Oasthouse smell urine.


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


(E) Miscellaneous Deficiency
Galactosemia Galactose I Phopsphate uridyl transferase deficiency
Albinism Tyrosinase Deficiency
Lesch- Nyhan Syndrome HGPRT Deficiency ( Hypoxanthine guanine phosphoribosyl transferase)
Rate limiting step of catecholamines production Tyrosine hydroxylase
Rate limiting step of cholesterol production HMG CoA reductase
Refsum’s disease Phytanic acid malabsorption treatment- stop vegetable intake
Orotic aciduria Pyrimidine metabolism is disturbed
Gout Purine metabolism is disturbed