Neuromuscular

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METABOLIC ATAXIAS

Abetalipoproteinemia
Biotinidase Deficiency
Carnitine acetyltransferase
Cerebrotendinous Xanthomatosis
Gamma-Glutamyl Cysteine Synthetase
Hartnup
Hydroxyglutaric aciduria
  D-2 & L-2
  L-2
Hyperammonemic
Hypobetalipoproteinemia
Maple Syrup Urine Disease
Niemann-Pick, Type C
Recessive ataxias
Refsum Disease
Wilson's Disease
General features
  • Usually Autosomal Recessive
  • Multisystem Involvement
  • Dietary treatments often effective


Hartnup

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 Disturbances (Late Onset)



Biotinidase Deficiency

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

L-2 Hydroxyglutaric aciduria

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


D-2 & L-2 Hydroxyglutaric aciduria (D,L-2-HGA) 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

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

Hypobetalipoproteinemia

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

Refsum Disease

Phytanic Acid Oxidase

Cerebrotendinous Xanthomatosis

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)

NPC1 ; Chromosome 18q11-q12; Recessive
NPC2 (HE1) ; Chromosome 14q24.3; Recessive


Carnitine acetyltransferase deficiency

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

Also see: Recessive Ataxias


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References
1. Neuromuscular Disorders 2000;10:407-414
2. Muscle Nerve 2001;24:284-287
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

4/18/2013