Successful pregnancy in a treated patient with biotinidase deficiency.
We report a patient with biotinidase deficiency treated with biotin during pregnancy with favourable outcome.
Hendriksz
C J
CJ
Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK. chris.hendriksz@bch.nhs.uk
Preece
M A
MA
Chakrapani
A
A
D001710:Biotin / Q000009:adverse effects / Q000378:metabolism / Q000627:therapeutic use*; D043523:Biotinidase / Q000235:genetics; D028921:Biotinidase Deficiency / Q000150:complications* / Q000628:therapy*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome
D001710:Biotin; D043523:Biotinidase