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Abetalipoproteinemia: MTP; 4q22
AMACR: 5p13
Biotinidase Deficiency: 3q25
Carnitine acetyltransferase: 9q34
Cerebrotendinous Xanthomatosis: CYP27A1; 2q33
Gamma-Glutamyl Cysteine Synthetase: 6p12
Glutaminase: 2q32
Hartnup: SLC6A19; 5p15
Hydroxyglutaric aciduria
  D-2 & L-2
Hyperammonemic: Urea cycle
Hypobetalipoproteinemia: APOB; 2p24, 3p22
Maple Syrup Urine Disease: BCKDHB; 19q13
3-Methylglutaconic aciduria: DNAJC19; 3q26
Niemann-Pick, Type C: NPC1; 18q11
Recessive ataxias
Refsum Disease: PHYH; 10pter
Wilson's DiseaseATP7B; 13q14
General features
  • Usually Autosomal Recessive
  • Multisystem Involvement
  • Dietary treatments often effective
Also see
  Recessive ataxias


  SLC6A19 ; Chromosome 5p15.33; Recessive

Maple Syrup Urine Disease (Intermittent Form)

  Branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB) ; Chromosome 6q14.1; Recessive

Hyperammonemic & Urea cycle Disturbances (Early or Late Onset)

Biotinidase Deficiency (Neurocutaneous syndrome)

  Biotinidase (BTD) ; Chromosome 3q25; Recessive
  Holocarboxylase synthetase (HLCS)

L-2 Hydroxyglutaric Aciduria (L2HGA) 10

  L-2-Hydroxyglutarate dehydrogenase (L2HGDH) ; Chromosome 14q22.1; Recessive

D-2 & L-2 Hydroxyglutaric aciduria (D,L-2-HGA; D2L2AD) 5

  Solute carrier family 25 (Mitochondrial carrier, citrate transporter), Member 1 (SLC25A1) ; Chromosome 22q11.21; Recessive

Wilson's Disease

  ATPase, Cu++ transporting, β polypeptide (ATP7B) ; Chromosome 13q14.3-q21.1; Recessive

A-β-lipoproteinemia (ABL)

  Microsomal Triglyceride Transfer Protein, large polypeptide (MTP) ; Chromosome 4q23


  Apolipoprotein B ; Chromosome 2p24-p23; Dominant
  Chromosome 3p22-p21.1 ; Dominant

Refsum Disease

  Phytanic Acid Oxidase

Cerebrotendinous Xanthomatosis (CTX)

  Cytochrome 450, subfamily XXVII (Sterol 27-hydrolase) (CYP27A1) ; Chromosome 2q35; Recessive

Gamma-Glutamyl Cysteine Synthetase

  Glutamate-cysteine ligase, catalytic subunit (GCLC) ; Chromosome 6p12

Niemann-Pick, Type C (Subacute juvenile form)

  NPC Intracellular cholesterol transporter 1(NPC1) ; Chromosome 18q11-q12; Recessive
  NPC Intracellular cholesterol transporter 2 (NPC2; HE1) ; Chromosome 14q24.3; Recessive

Carnitine acetyltransferase deficiency

  Carnitine acetyltransferase (CRAT) ; Chromosome 9q34.1; Recessive

3-Methylglutaconic aciduria, type I (MGCA1)

  AU-specific RNA-binding protein (AUH; 3-Methylglutaconyl-CoA hydratase) ; Chromosome 9q22.31; Recessive

Glutaminase deficiency 8

  Glutaminase (GLS) ; Chromosome 2q32.2; Recessive

Also see: Recessive Ataxias

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3. Neuropathology 2007;27:62-66
4. Neurology 2102;78 On line Mar
5. American J Human Genet 2013; Online April, J Med Genet 2013;50:240-245
6. J Neuromuscular Diseases 2014;1:75–90.
7. J Inherit Metab Dis 2017 Mar 1
8. N Engl J Med 2019;380:1433-1441
9. Mol Genet Metab Rep 2020 Dec 15
10. Mol Genet Metab Rep 2023;36:100979