title: Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.
abstract: Hypotonia was the initial symptom in four siblings from a nonconsanguineous Tunisian-Jewish family. Plasma carnitine was severely deficient, and urinary organic acid analysis revealed increased excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. 3-Methylcrotonyl-coenzyme A carboxylase activity was reduced in skin fibroblasts; pyruvate carboxylase and serum biotinidase activities were normal. We conclude that 3-methylcrotonyl-coenzyme A carboxylase deficiency should be added to the list of metabolic causes of familial hypotonia of childhood.
authors.affiliation: Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.
authors.forename: O N
authors.initials: ON
authors.lastname: Elpeleg
authors.forename: S
authors.initials: S
authors.lastname: Havkin
authors.forename: V
authors.initials: V
authors.lastname: Barash
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: B
authors.initials: B
authors.lastname: Glick
authors.forename: R S
authors.initials: RS
authors.lastname: Shalev
mesh_terms: D019735:Carbon-Carbon Ligases; D002331:Carnitine / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008025:Ligases / Q000172:deficiency* / Q000378:metabolism; D008297:Male; D009123:Muscle Hypotonia / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics*; D011766:Pyruvate Carboxylase / Q000378:metabolism
chemical_list: D008025:Ligases; D019735:Carbon-Carbon Ligases; D011766:Pyruvate Carboxylase; C021573:methylcrotonoyl-CoA carboxylase; D002331:Carnitine