Glutaric Acidemia Type II: Heterogeneity of Clinical and Biochemical Phenotypes
نویسندگان
چکیده
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 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 کاملBiochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I.
Glutaric acidemia type I (GA-I) is an autosomal recessive disorder of amino acid metabolism resulting from a deficiency of glutaryl-CoA dehydrogenase (GCDH). Patients accumulate glutaric acid (GA) and 3-OH glutaric acid (3-OHGA) in their blood, urine and CSF. Clinically, GA-I is characterized by macrocephaly, progressive dystonia and dyskinesia. Degeneration of the caudate and putamen of the ba...
متن کاملComplementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
Using cultured skin fibroblasts, we studied the heterogeneity of inborn errors of leucine metabolism such as isovaleric acidemia (IVA), glutaric aciduria type II (GA II), and multiple carboxylase deficiency (MC). We first developed a simple macromolecular-labeling test to measure the ability of cells to oxidize [1-14C]isovaleric acid in situ in culture. Cells from two different lines were fused...
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...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1990
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199003000-00024