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Pyridoxine-Dependent Seizures Caused by Alpha Amino Adipic Semialdehyde Dehydrogenase Deficiency: The First Polish Case with Confirmed Biochemical and Molecular Pathology

Department of Child Neurology, The Children's Memorial Health Institute, Warsaw, Poland, magdalen_ka{at}tlen.pl

Tomasz Kmiec, MD, PhD

Department of Child Neurology, The Children's Memorial Health Institute, Warsaw, Poland

Cornelis Jakobs, PhD

VU University Medical Centre, Department of Clinical Chemistry, Amsterdam, The Netherlands

Marek Kacinski, MD, PhD

Jagiellonian University, Department of Pediatric Neurology, Polish-American Children's Hospital, Krakow, Poland

Slawomir Kroczka, MD, PhD

Jagiellonian University, Department of Pediatric Neurology, Polish-American Children's Hospital, Krakow, Poland

Gajja S. Salomons, PhD

VU University Medical Centre, Department of Clinical Chemistry, Amsterdam, The Netherlands

Eduard A. Struys, PhD

VU University Medical Centre, Department of Clinical Chemistry, Amsterdam, The Netherlands

Sergiusz Jozwiak, MD, PhD

Department of Child Neurology, The Children's Memorial Health Institute, Warsaw, Poland

Pyridoxine-dependent seizures are a rare condition recognized when numerous seizures respond to pyridoxine treatment and recur on pyridoxine withdrawal. For decades the diagnosis was confirmed only with pyridoxine treatment withdrawal trial. Recently described biochemical and molecular pathology improved the diagnostic process for those cases in which seizures are caused by alpha amino adipic semialdehyde dehydrogenase deficiency. This article presents a girl with recurrent status epilepticus episodes resistant to phenobarbital and phenytoin and partly responding to midazolam. Eventually the seizures were completely controlled with pyridoxine; however, due to the severe condition of this child when seizing, no trial of withdrawal has been performed. The diagnosis of pyridoxine-dependent seizures was confirmed with biochemical and molecular testing revealing elevated -AASA excretion and the presence of 2 different mutations in the antiquitin ( ALDH7A1) gene. Due to the availability of reliable laboratory testing, confirmation of the diagnosis was made without the life-threatening trial of pyridoxine withdrawal.

Key Words: pyridoxine-dependent seizures • alpha amino adipic semialdehyde dehydrogenase • -AASA dehydrogenase • antiquitin

This version was published on December 1, 2008

Journal of Child Neurology, Vol. 23, No. 12, 1455-1459 (2008)
DOI: 10.1177/0883073808318543


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