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Novel Mutation Causing Partial Biotinidase Deficiency in a Syrian Boy With Infantile Spasms and Retardation

Department of Pediatrics American University of Beirut Medical Center, mamikati{at}aub.edu.lb.

Pierre Zalloua, PhD

Department of Obstetrics and Gynecology American University of Beirut Medical Center

Pascale Karam, MD

Department of Pediatrics American University of Beirut Medical Center

Mohamad-Zuheir Habbal, PhD

Department of Laboratory Medicine American University of Beirut Medical Center

Amal C. Rahi, MPH

Department of Pediatrics American University of Beirut Medical Center Beirut, Lebanon

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. (J Child Neurol 2006;21:978-981; DOI 10.2310/ 7010.2006.00200).

Journal of Child Neurology, Vol. 21, No. 11, 978-981 (2006)
DOI: 10.1177/08830738060210110301


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