Biotinidase deficiency : the importance of adequate follow-up for an inconclusive newborn screening result

Biotinidase deficiency is an inherited metabolic disorder characterized by inability to recycle protein-bound biotin. It usually presents with ataxia and seizures, though atypical presentations have also been described. We report a 15-month-old boy with profound biotinidase deficiency who presented...

Full description

Saved in:
Bibliographic Details
Published in:European journal of pediatrics 2005-05, Vol.164 (5), p.298-301
Main Authors: HOFFMAN, Trevor L, SIMON, Erin M, FICICIOGLU, Can
Format: Article
Language:English
Subjects:
Acidosis
Acidosis, Lactic - etiology
Ataxia
Ataxia - etiology
Biological and medical sciences
Biotin
Biotin - therapeutic use
Biotinidase
Biotinidase Deficiency - diagnosis
Biotinidase Deficiency - drug therapy
Brain - pathology
Continuity of Patient Care
Deafness
General aspects
Hearing Loss, Bilateral - etiology
Hearing Loss, Sensorineural - etiology
Humans
Infant
Infant, Newborn
Intellectual disabilities
Lactic acidosis
Magnetic Resonance Imaging
Male
Medical sciences
Metabolic disorders
Morbidity
Muscle Hypertonia - etiology
Neonatal Screening
Neuroimaging
Neurological complications
Pakistan - ethnology
Pennsylvania
Respiratory Sounds - etiology
Seizures
Speech Disorders - etiology
Substantia alba
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Biotinidase deficiency is an inherited metabolic disorder characterized by inability to recycle protein-bound biotin. It usually presents with ataxia and seizures, though atypical presentations have also been described. We report a 15-month-old boy with profound biotinidase deficiency who presented with laryngeal stridor and subsequently developed severe ataxia and lactic acidosis. Subsequently, it was discovered that the patient's newborn screening test for biotinidase activity had been inconclusive, but confirmatory testing had not been done. Brain magnetic resonance imaging showed multiple white matter non-enhancing T2 hyperintensities, which largely resolved following 6 months of biotin therapy; however, there was residual deafness and mental retardation. An argument is made for universal newborn screening in biotinidase deficiency and improved mechanisms for follow-up of positive screens, because delay in diagnosis results in irreversible morbidity, newborn screening is cost effective, and early therapy prevents the neurologic sequelae.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-005-1629-8