Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
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منابع مشابه
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.
BACKGROUND Pyridoxine-dependent seizures (PDS) is a rare, autosomal recessively inherited disorder. Recently alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency was identified as a major cause of PDS, which causes accumulation of both alpha-AASA and pipecolic acid (PA) in body fluids. METHODS We studied urinary and plasma alpha-AASA and PA levels in 12 Dutch clinically diagno...
متن کاملPyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
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 cause...
متن کامل[Pyridoxine dependent seizures].
Pyridoxine dependent seizures is a rare autosomal recessive disorder. Its manifestations are intractable epilepsy leading to death in status epilepticus. Treatment with pyridoxine prevents the seizures and normalizes the EEG. Early diagnosis is important for the intellectual outcome. In Denmark, the disease has occurred in a child of healthy Tamil immigrants, who are first cousins. The child's ...
متن کاملGenotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate. However, whilst this is a highly treatable disorder, there is general uncertainty about when to consider this diagnos...
متن کاملProfound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
Pyridoxine-dependent epilepsy (PDE) was first described in 1954. The ALDH7A1 gene mutations resulting in α-aminoadipic semialdehyde dehydrogenase deficiency as a cause of PDE was identified only in 2005. Neonatal epileptic encephalopathy is the presenting feature in >50% of patients with classic PDE. We report the case of a 13-month-old girl with profound neonatal hypoglycemia (0.6 mmol/L; refe...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2007
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.2006.103192