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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1542/peds.2012-1094

Persistent URL (handle)

Copy link address

Cite this

@article{8bd4ca338b8448838fc196d0728d0c2e,

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",

volume = "130",

pages = "e1716--e1719",

journal = "Pediatrics",

issn = "0031-4005",

publisher = "American Academy of Pediatrics",

number = "6",

}

TY - JOUR

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

UN SDGs

Access to Document

Persistent URL (handle)

Fingerprint

Cite this