Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.
case_report · Level V
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- Record sourced from PubMed, PMID 16027709.
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Abstract
We describe 7 Polynesian babies with a unique severe form of holocarboxylase synthetase deficiency characterized by antenatal growth retardation, subependymal cysts, only partial response to biotin, and a poor outcome.
Medical subject headings
- Biotin
- Drug Resistance
- Fetal Growth Retardation
- Holocarboxylase Synthetase Deficiency