منابع مشابه
Glutaric Acidemia Type 1: Case Report
Introduction: Glutaric academia type I is a metabolic disorder that is caused due to deficiency of glutaryl-CoA dehydrogenase. Macrocephaly is a common sign in GA1, although many infants usually appear healthy at birth. Case Report A 5.5 year old boy with GA1was admitted to NICU. Chief compliance of patient for hospitalization was pneumonia and sepsis and he was intubated and mechanically ven...
متن کاملglutaric acidemia type 1: case report
introduction: glutaric academia type i is a metabolic disorder that is caused due to deficiency of glutaryl-coa dehydrogenase. macrocephaly is a common sign in ga1, although many infants usually appear healthy at birth. case report a 5.5 year old boy with ga1was admitted to nicu. chief compliance of patient for hospitalization was pneumonia and sepsis and he was intubated and mechanically ven...
متن کاملGlutaric Acidemia Type II Associated with Bipolar Affective Disorder
Inborn errors of metabolism represent rare but important causes of psychiatric disorders in adolescents or adults. Here we describe a young male presenting with symptoms of bipolar affective disorder with underlying metabolic disorder. During hospitalization he was noticed to have increased sensitivity to antipsychotics, lithium and had poor response to treatment. He was detected to have metabo...
متن کاملDetection of glutaric acidemia type 1 in infants through tandem mass spectrometry
Glutaric acidemia type 1 (GA1) is a rare inherited metabolic disorder which goes underdiagnosed due to its latency period and subtle presentation. A pilot clinical study was conducted to assess the usefulness, specificity and sensitivity of the tandem mass (MS/MS) spectrometer, specifically the Abbott (AB) Sciex 3200, in the screening for GA1 using dried blood spots. A total of 17,100 specimens...
متن کاملDeficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts.
Glutaric acidemia type II (GA II) is a human genetic disorder. It has been suggested that the primary defect in this disorder is a deficiency of a protein involved in electron transport between the acyl-CoA dehydrogenases and the bc1 complex of the mitochondrial respiratory chain. Antisera were raised to purified porcine electron transfer flavoprotein (ETF) and electron transfer flavoprotein:ub...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
سال: 2006
ISSN: 1552-4868,1552-4876
DOI: 10.1002/ajmg.c.30088