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.
Wilson
Callum J
CJ
National Metabolic Service, Starship Children's Hospital, the Neonatal Service, Kidz First Hospital, Auckland, New Zealand. callumw@adhb.govt.nz
Myer
Michael
M
Darlow
Brian A
BA
Stanley
Thorsten
T
Thomson
Glen
G
Baumgartner
E Regula
ER
Kirby
Denise M
DM
Thorburn
David R
DR
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
D001710:Biotin