Glutaryl-Coenzyme A dehydrogenase deficiency
نویسنده
چکیده
Key-words Disease name and synomyms Diagnosis criteria/definition Differential diagnosis Incidence Clinical description Treatment Etiology Diagnostic methods Genetic counseling and prenatal diagnosis Unresolved questions and outlook References
منابع مشابه
The purification and characterization of glutaryl-coenzyme A dehydrogenase from porcine and human liver.
Glutaryl-CoA dehydrogenase, a multifunctional enzyme responsible for dehydrogenation and decarboxylation of glutaryl-CoA to crotonyl-CoA, has been purified 1,680-fold from porcine liver mitochondria. The purified porcine enzyme has a subunit molecular weight of 47,800 and a native molecular weight of 190,500. Porcine glutaryl-CoA dehydrogenase catalyzed the conversion of [1,5-14C]glutaryl-CoA t...
متن کاملTherapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.
Glutaric aciduria type I, an inherited deficiency of glutaryl-coenzyme A dehydrogenase localized in the final common catabolic pathway of L-lysine, L-hydroxylysine and L-tryptophan, leads to accumulation of neurotoxic glutaric and 3-hydroxyglutaric acid, as well as non-toxic glutarylcarnitine. Most untreated patients develop irreversible brain damage during infancy that can be prevented in the ...
متن کاملMutation analysis in glutaric aciduria type I.
Glutaric aciduria type 1 (GA1), resulting from the genetic deficiency of glutaryl-CoA dehydrogenase (GDH), is a relatively common cause of acute metabolic brain damage in infants. Encephalopathic crises may be prevented by carnitine supplementation and diet, but diagnosis can be difficult as some patients do not show the typical excretion of large amounts of glutaric and 3-hydroxyglutaric acids...
متن کاملTeaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency).
A 14-month-old boy presented with loss of developmental milestones and tonic spasms following a diarrheal illness. He was born to nonconsanguineous parents and had mild motor delays. Examination was remarkable for macrocephaly, axial hypotonia, and asymmetric dystonic posturing of neck, trunk, and extremities. Brain MRI (figure) and elevated glutaryl carnitine on tandem mass spectroscopy were d...
متن کاملDisease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder caused by mutations in the glutaryl-CoA dehydrogenase gene (GCDH), leading to an accumulation and high excretion of glutaric acid and 3-hydroxyglutaric acid. Considerable variation in severity of the clinical phenotype is observed with no correlation to the genotype. We report here for the first time on expression ...
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