Metabolic disorders

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