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

J Inherit Metab Dis. 2001 Jun;24(3):421-2. doi: 10.1023/a:1010537527291.

Authors

G Tóth¹, E Morava, J Bene, J J Selhorst, H Overmars, P Vreken, J Molnár, V Farkas, B Melegh

Affiliation

¹ University of Pécs, Department of Medical Genetics and Child Development, Hungary.

PMID: 11486914
DOI: 10.1023/a:1010537527291

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

DNA, Mitochondrial
Carnitine