Diagnosis Of Glutaric Acidemia Type I: A Cautionary Note
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 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 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 کاملA new celll model of glutaric acidemia type I and the toxicity research
Glutaric acidemia (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine,and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercur...
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: Laboratory Medicine
سال: 2005
ISSN: 0007-5027
DOI: 10.1309/8hh2-tg91-5dac-dbac