title: Familial carnitine deficiency: further evidence for autosomal recessive transmission with variable expression.
abstract: Carnitine deficiency occurring in families has been rarely reported and the genetic transmission has not yet been clearly elucidated. Five members of one family showing marked heterogeneity of carnitine deficiency states are presented. In three patients, there was no correlation between measurable carnitine levels in serum and muscle and the clinical findings. The parents, who are remote relatives from an isolated village in Kurdistan (Iraq), had low muscle carnitine levels; however, they were asymptomatic. One son, with systemic carnitine deficiency causing muscle weakness and recurrent episodes of severe hepatic encephalopathy, died at 3 years of age. His brother had mild proximal muscle weakness associated with low muscle carnitine levels. He was successfully treated with L-carnitine and prednisone. A daughter is asymptomatic, but with low serum and muscle levels of carnitine. The marked heterogeneity of carnitine deficiency states within one family, where both parents had low muscle carnitine levels, suggests an autosomal recessive inheritance with variable expression.
authors.affiliation: Department of Pediatrics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Shahar
authors.forename: N
authors.initials: N
authors.lastname: Brand
authors.forename: Y
authors.initials: Y
authors.lastname: Shapira
authors.forename: V
authors.initials: V
authors.lastname: Barash
authors.forename: A
authors.initials: A
authors.lastname: Gutman
mesh_terms: D002331:Carnitine / Q000172:deficiency*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005786:Gene Expression Regulation; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D010375:Pedigree; D012202:Reye Syndrome / Q000235:genetics
chemical_list: D002331:Carnitine