Classification of inborn error of metabolism

1. peroxisomal disorder

1.1. Zellweger syndrome

1.2. Adrenoleukodystrophy

2. Urea cycle disorder

2.1. Ornithine transcabamylase deficiency

2.2. Argininosuccinate lyase deficiency

2.3. Citrulinemia

3. Porphyrin and heme synthesis

3.1. Acute intermittent porphyria

3.2. congenital erythropoietic porphyria

4. Purine and Pyrimidine metabolism disorders [buiding blocks of DNA AND RNA]

4.1. Lesch-Nyhan syndrome

4.2. Orotic aciduria

5. Mitochondrial disorder

5.1. Mitochondrial myopathy

5.2. Leigh syndrome

5.3. MELAS

6. Steroids and lipids

6.1. CAH

7. Transport defects

7.1. Cystinuria

7.2. glucose galactose malabsorption

7.3. Hartnup disease

8. Carbohydrate

8.1. galactosemia

8.2. glycogen storage diseases

8.3. Fructose intolerance

9. Fat

9.1. fatty acids

9.1.1. Medium chain acyl -coA dehydrogenase deficiency [MCAD]

9.1.2. Long- chain 3 hydroxyacyl

9.2. glycrol

10. Protein

10.1. amino acids

10.1.1. MSUD

10.1.2. PKU

10.1.3. Homocystinurea

10.1.4. Tyrosinemia

11. Organic acid metabolisim disorder

11.1. Methylmalonic acidemia

11.2. Propionic acidemia

11.3. isovaleric acidemia

12. Lysosomal storage disease

12.1. Gaucher [ deficiency in glucocerebrosidase ] .

12.2. Tay- Sachs [ deficieny in hexosaminidase]

12.3. Hurler syndrome[MPS1] deficiency in alph -L- iduronidase.

13. Metal metabolism

13.1. Wilson

13.2. Hemochromatosis

13.3. Menkes

14. Vitamines and co factors

14.1. Biotinidase deficiency

14.2. Menkes disease

14.3. Vitamin D dependent rickets