Metabolic disorders
- Disorders of lipid metabolism
- Hypertriglyceridaemia alone
- Hypercholesterolaemia alone
- Combined hyperlipidaemia
- Inborn errors of carbohydrate metabolism
- Glycogen storage disease
- Galacosaemia
- Fructose metabolism
- Fructosuria
- Fructose intolerance
- Fructose-1,6-diphosphate deficiency
- Pentosuria
- Inborn errors of amino acid metabolism
- Albinism
- Alkaptonuria
- Homosytinuria
- Phenylketonuria
- Histidinaemia
- "Maple syrup" disease
- Oxalosis
- Specific aminoacidurias
- Cystinuria
- Hartnup's disease
- Tryptophan malabsorption syndrome
- Familial iminoglycinuria
- Methionine malabsorption syndrome
- Lysosomal storage diseases
- Gaucher's disease
- Niemann-Pick disease
- Mucopolysaccharidoses
- GM2 gangliosidoses
- Fabry's disease