Amino Acid Disorders
- PKU (Phenylketonuria)
- Hyperphenylalaninaemia
- Tyrosinaemia
- Homocystinuria
- MSUD (Maple Syrup Urine Disease)
- Gyrate Atrophy
Organic Acidaemias
- Propionic Acidaemia
- Methlymalonic Acidaemia
- Isovaleric Acidaemia
- Glutaric Acidaemia Type 1
Urea Cycle Disorders
- Ornithine transcarbamylase deficiency (OTC)
- Carbamylphosphate synthase 1 deficiency (CPS 1)
- Citrullinaemia
- Arginosuccinic aciduria
- Argininaemia
- HHH Syndrome (Hyperammonaemia, hyperornithinaemia, homocitrullinuria)
Disorders of fatty acid oxidation and ketogenesis
- Carnitine palmitoyltransferase 1 deficiency (CPT 1)
- Carnitine palmitoyltransferase 2 deficiency (CPT 2)
- Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
- Long chain acyl-CoA dehydrogenase deficiency (LCHAD)
- Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
- Short chain acyl-CoA dehydrogenase deficiency (SCAD)
- Glutaric Acidaemia Type 2 (MADD)
- HMG-CoA lyase deficiency
Carbohydrate Disorders
- Hereditary Fructose intolerance (Fructosaemia)
- Galactosaemia
- Glycogen Storage Disorder Type 1 (von Gierke)
- Glycogen Storage Disorder Type 2 (Pompe/Acid Maltase Deficiency)
- Glycogen Storage Disorder Type 3 (Cori / Forbes)
Lysosomal Storage Disorders (LSD)
- MPS Type 1 (Hurler Scheie, Hurler, Scheie)
- MPS Type 2 (Hunter)
- MPS Type 3 (Sanfilippo)
- MPS Type 4 (Morquio)
- MPS Type 6 (Maroteaux-Lamy)
- MPS Type 7 (Sly)
- MPS Type 9 (Natowicz)
- Niemann-Pick disease Type1 and Type 2
- Gaucher disease
- Fabry disease
Peroxisomal Disorders
- X-linked ALD (Adrenoleukodystrophy)
- AMN (Adrenomyeloneuropathy)
- Refsum Disease
- Zellweger syndrome
Mitochondrial disorders
- MELAS (Encephalomyopathy, lactic acidosis, stroke-like episodes, small stature, migraine, diabetes mellitus)
- MERRF (Myoclonic Epilepsy, ragged red fibres)
- NARP (Neuropathy, ataxia, retinitis pigmentosa)
Others
- TMAU (Trimethylaminuria/Fish odour syndrome)
- SLO (Smith-Lemli-Opitz syndrome)
- Alkaptonuria
Last reviewed: 06 June 2023