Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct
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 کاملMultimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency.
Despite early diagnosis, one-third of Amish infants with glutaryl-CoA dehydrogenase deficiency (GA1) develop striatal lesions that leave them permanently disabled. To better understand mechanisms of striatal degeneration, we retrospectively studied imaging results from 25 Amish GA1 patients homozygous for 1296C>T mutations in GCDH. Asymptomatic infants had reduced glucose tracer uptake and incr...
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
متن کاملcomparison of the amount of debris extruded apically in two rotary techniques: flexmaster and m2
چکیده ندارد.
15 صفحه اولCerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency.
In glutaric aciduria type 1, glutaryl-coenzyme A and its derivatives are produced from intracerebral lysine and entrapped at high concentrations within the brain, where they interfere with energy metabolism. Biochemical toxicity is thought to trigger stroke-like striatal degeneration in susceptible children under 2 years of age. Here, we explore vascular derangements that might also contribute ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 2000
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-200009000-00009