title: Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.
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.
authors: National Metabolic Service, Starship Children's Hospital, the Neonatal Service, Kidz First Hospital, Auckland, New Zealand. callumw@adhb.govt.nz
authors: Callum J
authors: CJ
authors: Wilson
authors: Michael
authors: M
authors: Myer
authors: Brian A
authors: BA
authors: Darlow
authors: Thorsten
authors: T
authors: Stanley
authors: Glen
authors: G
authors: Thomson
authors: E Regula
authors: ER
authors: Baumgartner
authors: Denise M
authors: DM
authors: Kirby
authors: David R
authors: DR
authors: Thorburn
mesh_terms: D001315:Australia; D001710:Biotin / Q000494:pharmacology*; D020863:Central Nervous System Cysts / Q000151:congenital / Q000000981:diagnostic imaging; D004351:Drug Resistance; D004805:Ependyma; D017809:Fatal Outcome; D005317:Fetal Growth Retardation; D028922:Holocarboxylase Synthetase Deficiency / Q000188:drug therapy* / Q000208:ethnology* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D009520:New Zealand; D018947:Samoa / Q000208:ethnology; D014463:Ultrasonography
chemical_list: D001710:Biotin