Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I
نویسندگان
چکیده
منابع مشابه
Biochemical, 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 کاملStriatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia type I.
Glutaric acidemia type I (GA-I) is an inherited neurometabolic childhood disorder caused by defective activity of glutaryl CoA dehydrogenase (GCDH) which disturb lysine (Lys) and tryptophan catabolism leading to neurotoxic accumulation of glutaric acid (GA) and related metabolites. However, it remains unknown whether GA toxicity is due to direct effects on vulnerable neurons or mediated by GA-i...
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چکیده ندارد.
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 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...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2002
ISSN: 1460-2083
DOI: 10.1093/hmg/11.4.347