Pyridoxine-dependent Epilepsy With Elevated Urinary alpha-Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency

E.A. Struijs; B. Nota; A. Bakkali; S. Al Shahwan; G.S. Salomons; B. Tabarki

doi:10.1542/peds.2012-1094

Pyridoxine-dependent Epilepsy With Elevated Urinary alpha-Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency

E.A. Struijs
, B. Nota
, A. Bakkali
, S. Al Shahwan
, G.S. Salomons
, B. Tabarki

Research output: Contribution to Journal › Article › Academic › peer-review

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

Original language	English
Pages (from-to)	e1716-e1719
Journal	Pediatrics
Volume	130
Issue number	6
DOIs	https://doi.org/10.1542/peds.2012-1094
Publication status	Published - 2012

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SDG 3 Good Health and Well-being

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10.1542/peds.2012-1094

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title = "Pyridoxine-dependent Epilepsy With Elevated Urinary alpha-Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency",

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",

author = "E.A. Struijs and B. Nota and A. Bakkali and \{Al Shahwan\}, S. and G.S. Salomons and B. Tabarki",

year = "2012",

doi = "10.1542/peds.2012-1094",

language = "English",

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T1 - Pyridoxine-dependent Epilepsy With Elevated Urinary alpha-Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency

AU - Struijs, E.A.

AU - Nota, B.

AU - Bakkali, A.

AU - Al Shahwan, S.

AU - Salomons, G.S.

AU - Tabarki, B.

PY - 2012

Y1 - 2012

N2 - 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

AB - 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

U2 - 10.1542/peds.2012-1094

DO - 10.1542/peds.2012-1094

M3 - Article

SN - 0031-4005

VL - 130

SP - e1716-e1719

JO - Pediatrics

JF - Pediatrics

IS - 6

ER -

Pyridoxine-dependent Epilepsy With Elevated Urinary alpha-Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency

Abstract

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