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Date: 19 July 2024

Time: 20:23

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)


  • TMAU (Trimethylaminuria/Fish odour syndrome)
  • SLO (Smith-Lemli-Opitz syndrome)
  • Alkaptonuria
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