Category:Inborn errors of metabolism

A

• Amino acid metabolism disorders (84 P)

C

• Cholesterol and steroid metabolism disorders (32 P)

E

• Eicosanoid metabolism disorders (5 P)

F

• Fatty-acid metabolism disorders (20 P)

G

• Glycoprotein metabolism disorders (16 P)
• Congenital disorders of glycosylation (8 P)

H

• Heme metabolism disorders (1 C, 8 P)

I

• Inborn errors of carbohydrate metabolism (39 P)
• Inborn errors of metal metabolism (9 P)
• Inborn errors of purine-pyrimidine metabolism (15 P)

L

• Lipid metabolism disorders (1 C, 21 P)
• Lysosomal storage diseases (3 C, 11 P)

P

• Phospholipid metabolism disorders (4 P)
• Proteoglycan metabolism disorders (13 P)

S

• Skin conditions resulting from errors in metabolism (125 P)

T

• TCA and ETC metabolism disorders (7 P)

V

• Vitamin, coenzyme, and cofactor metabolism disorders (11 P)

• Inborn errors of metabolism

*

• List of disorders included in newborn screening programs
• Newborn screening

0–9

• 2-Hydroxyglutaric aciduria
• 2,4 Dienoyl-CoA reductase deficiency
• 3 hydroxyisobutyric aciduria

A

• Analbuminaemia

B

• Biotin-thiamine-responsive basal ganglia disease

C

• Cerebral creatine deficiency
• Citrullinemia type I
• Congenital disorder of glycosylation
• Congenital lactic acidosis
• Creatine transporter defect

G

• Garrod's tetrad
• Glycine encephalopathy
• GLYT1 encephalopathy
• Guanidinoacetate methyltransferase deficiency

I

• Idiosyncrasy

L

• Leloir pathway
• Lysosomal storage disease

M

• MEPAN syndrome
• Metab-L
• Metabolic myopathy
• Metascreen

O

• Ogden syndrome
• Ornithine aminotransferase deficiency

S

• Sickle Cell Anemia, a Molecular Disease
• Sitosterolemia
• Sphingosine phosphate lyase insufficiency syndrome
• Succinyl-CoA:3-oxoacid CoA transferase deficiency

T

• Trimethylaminuria

U

• Urine organic acids

W

• Winchester syndrome