Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome.

• Authors: G Tóth, E Morava, J Bene, J J Selhorst, H Overmars, P Vreken, J Molnár, V Farkas, B Melegh
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 24 Issue 3 Pg. 421-2 (Jun 2001) ISSN: 0141-8955 [Print] United States
• PMID: 11486914 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial
• Carnitine

Topics

• Carnitine (administration & dosage, deficiency, therapeutic use)
• Cerebellar Ataxia
• Child
• DNA, Mitochondrial (genetics)
• Humans
• Intellectual Disability
• Leigh Disease (genetics)
• Male
• Muscular Diseases
• Mutation