Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Organic acidemias (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome, Lysinuric protein intolerance) - Sulfur (Homocystinuria, Cystathioninuria, Hawkinsinuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Argininemia, Hyperammonemia) - Glutaric acidemia type 1 - Hyperprolinemia - Sarcosinemia - Other Trimethylaminuria - Tetrahydrobiopterin deficiency - Beta-ketothiolase deficiency

Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria

Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (AB variant, Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease
Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)

Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia - Smith-Lemli-Opitz syndrome
Fatty acid: Adrenoleukodystrophy - Acyl-coA dehydrogenase (Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain) - Carnitine (Primary, I, II, -acylcarnitine) - Mitochondrial trifunctional protein deficiency

Cu Wilson's disease/Menkes disease - Fe Haemochromatosis, Aceruloplasminemia, Atransferrinemia - Zn Acrodermatitis enteropathica - PO₄³⁻ Hypophosphatemia/Hypophosphatasia - Mg²⁺ Hypermagnesemia/Hypomagnesemia - Ca²⁺ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism - Biotin Biotinidase deficiency

Electrolyte disturbance - Na⁺ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H₂O Dehydration/Hypervolemia - K⁺ Hypokalemia/Hyperkalemia - Cl⁻ Hyperchloremia/Hypochloremia

Dihydropyrimidine dehydrogenase deficiency - Hyperuricemia - Lesch-Nyhan syndrome - Purine nucleoside phosphorylase deficiency - Xanthinuria

Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate

Unconjugated (Lucey-Driscoll syndrome, Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)

Mucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly

Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis

Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia