Carnitine acetyltransferase deficiency
Ataxia/CerebellarOMIM 600184
W
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ataxia/metatax.html#Carnitine acetyltransferase deficiency
Overview
From WUSTL Neuromuscular● Epidemiology: 3 patients described Genetics No gene mutations described Possible allelic disorder: NBIA 8 Protein: Fatty acid metabolism Catalyzes reversible transfer of acyl groups from acyl-CoA thioester to carnitine Control of acyl-CoA/CoA ratio in mitochondria, peroxisomes, and endoplasmic reticulum High levels in skeletal muscle Clinical Onset age: Childhood or Infancy Ataxia: Intermittent Oculomotor palsy Hypotonia Cortical: Altered consciousness Progression: Fatal Laboratory Carnitine acetyltransferase deficiency in brain & systemic Muscle: mtDNA deletions, especially ND4-ND4L region
OMIM Entries
External Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.