Paediatrics - Inborn Errors of Metabolism

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