Maturation-Dependent Neurotoxicity of 3-Hydroxyglutaric and Glutaric Acids In Vitro : A New Pathophysiologic Approach to Glutaryl-CoA Dehydrogenase Deficiency
نویسندگان
چکیده
منابع مشابه
Teaching 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 کاملGlutaryl-Coenzyme A dehydrogenase deficiency
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
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Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes in the mitochondrial matrix. GA1 patients are prone to the development of encephalopathic crises which lead to an irreversible disabling dystonic movement disorder. The clinical and biochemical manifes...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 2000
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-200004000-00014