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J Pediatr. 1992 Sep;121(3):407-10.

Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency.

Author information

1
Metabolic Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.

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.

PMID:
1517917
DOI:
10.1016/s0022-3476(05)81796-2
[Indexed for MEDLINE]

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