Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
Publication
, Journal Article
Mikati, MA; Zalloua, P; Karam, P; Habbal, M-Z; Rahi, AC
Published in: J Child Neurol
November 2006
We report a case of partial biotinidase deficiency (plasma biotinidase levels: 1.30 nm/minute/mL) in a 7-month-old boy who presented with evidence of perinatal distress followed by developmental delay, hypotonia, seizures, and infantile spasms without alopecia or dermatitis. His neurologic symptoms improved markedly on biotin supplementation and antiepileptic drug therapy. DNA mutational analysis revealed that the patient was homozygous for a novel E64K mutation and his parents were heterozygous for the same mutation. Whereas preexisting perinatal distress probably contributed to the severity of the patient's symptoms, the described mutation is novel and is possibly responsible for at least some of his clinical manifestations.
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Published In
J Child Neurol
DOI
ISSN
0883-0738
Publication Date
November 2006
Volume
21
Issue
11
Start / End Page
978 / 981
Location
United States
Related Subject Headings
- Syria
- Spasms, Infantile
- Point Mutation
- Neurology & Neurosurgery
- Male
- Magnetic Resonance Imaging
- Intellectual Disability
- Infant
- Humans
- Biotinidase Deficiency
Citation
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Mikati, M. A., Zalloua, P., Karam, P., Habbal, M.-Z., & Rahi, A. C. (2006). Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. J Child Neurol, 21(11), 978–981. https://doi.org/10.1177/08830738060210110301
Mikati, Mohamad A., Pierre Zalloua, Pascale Karam, Mohamad-Zuheir Habbal, and Amal C. Rahi. “Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.” J Child Neurol 21, no. 11 (November 2006): 978–81. https://doi.org/10.1177/08830738060210110301.
Mikati MA, Zalloua P, Karam P, Habbal M-Z, Rahi AC. Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. J Child Neurol. 2006 Nov;21(11):978–81.
Mikati, Mohamad A., et al. “Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.” J Child Neurol, vol. 21, no. 11, Nov. 2006, pp. 978–81. Pubmed, doi:10.1177/08830738060210110301.
Mikati MA, Zalloua P, Karam P, Habbal M-Z, Rahi AC. Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. J Child Neurol. 2006 Nov;21(11):978–981.
Published In
J Child Neurol
DOI
ISSN
0883-0738
Publication Date
November 2006
Volume
21
Issue
11
Start / End Page
978 / 981
Location
United States
Related Subject Headings
- Syria
- Spasms, Infantile
- Point Mutation
- Neurology & Neurosurgery
- Male
- Magnetic Resonance Imaging
- Intellectual Disability
- Infant
- Humans
- Biotinidase Deficiency