Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort
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 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 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 کاملOnce in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
Background: GAI and MPSIIIB are two rare genetic disorders caused by pathogenic variants in two different genes. Here, we report a coexistence of these two different rare disorders in an individual. Methods: A four-year-old Iranian boy born to first-cousin parents suspected to have MPSIIIB and/or GAI was investigated in this study. Targeted genomic enrichment and NGS were used to examine genes ...
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...
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ژورنال
عنوان ژورنال: Brain
سال: 2005
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awh401