Severe Holocarboxylase Synthetase Deficiency with Incomplete Biotin Responsiveness Resulting in Antenatal Insult in Samoan Neonates

Severe Holocarboxylase Synthetase Deficiency with Incomplete Biotin Responsiveness Resulting in Antenatal Insult in Samoan Neonates

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.

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Bibliographische Detailangaben
Veröffentlicht in:The Journal of pediatrics 2005-07, Vol.147 (1), p.115-118
Hauptverfasser: Wilson, Callum J., Myer, Michael, Darlow, Brian A., Stanley, Thorsten, Thomson, Glen, Baumgartner, E. Regula, Kirby, Denise M., Thorburn, David R.
Format: Artikel
Sprache:eng
Schlagworte:
Australia
Biological and medical sciences
Biotin - pharmacology
Central Nervous System Cysts - congenital
Central Nervous System Cysts - diagnostic imaging
Drug Resistance
Ependyma
Fatal Outcome
Fetal Growth Retardation
General aspects
Holocarboxylase Synthetase Deficiency - drug therapy
Holocarboxylase Synthetase Deficiency - ethnology
Holocarboxylase Synthetase Deficiency - genetics
Holocarboxylase Synthetase Deficiency - pathology
Humans
Infant, Newborn
Medical sciences
New Zealand
Samoa - ethnology
Ultrasonography
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Beschreibung
Zusammenfassung: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2005.03.006