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  • Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.

Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.

Pediatrics (2012-11-14)
Eduard Alexander Struys, Benjamin Nota, Abdellatif Bakkali, Saad Al Shahwan, Gajja Sophi Salomons, Brahim Tabarki
ABSTRACT

α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition. We have recently found that the urinary excretion of α-AASA was also increased in molybdenum cofactor and sulfite oxidase deficiencies. The seizures in pyridoxine-dependent epilepsy are caused by lowered cerebral levels of pyridoxal-5-phosphate (PLP), the bioactive form of pyridoxine (vitamin B(6)), which can be corrected by the supplementation of pyridoxine. The nonenzymatic trapping of PLP by the cyclic form of α-AASA is causative for the lowered cerebral PLP levels. We describe 2 siblings with clinically evident pyridoxine-responsive seizures associated with increased urinary excretion of α-AASA. Subsequent metabolic investigations revealed several metabolic abnormities, all indicative for molybdenum cofactor deficiency. Molecular investigations indeed revealed a known homozygous mutation in the MOCS2 gene. Based upon the clinically evident pyridoxine-responsive seizures in these 2 siblings, we recommend considering pyridoxine supplementation to patients affected with molybdenum cofactor or sulfite oxidase deficiencies.

MATERIALS
Product Number
Brand
Product Description

Supelco
Pyridoxine Hydrochloride (B6), analytical standard
Pyridoxine hydrochloride, European Pharmacopoeia (EP) Reference Standard
Supelco
Pyridoxine hydrochloride, Pharmaceutical Secondary Standard; Certified Reference Material
Sigma-Aldrich
Pyridoxine hydrochloride, BioReagent, suitable for cell culture, suitable for insect cell culture, suitable for plant cell culture
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Pyridoxine hydrochloride, meets USP testing specifications
Sigma-Aldrich
Pyridoxine hydrochloride, ≥98% (HPLC)
Sigma-Aldrich
Pyridoxine, ≥98%
Sigma-Aldrich
DL-2-Aminoadipic acid, ≥99%