glutaric aciduria

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glutaric aciduria

An inherited disorder marked by multiple neurological deficits in childhood, including motor dysfunction, developmental delay, and brain atrophy. It is caused by defective manufacture of glutaryl-coenzyme A dehydrogenase.
See also: aciduria
References in periodicals archive ?
Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder caused by deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine and L-tryphtophan.
Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.
Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency).
Commonly measured acylcarnitines and their associated disorders Analyte Disorder C0 free carnitine carnitine transporter deficiency C3 propionylcarnitine propionic and methylmalonic acidemia C4 butyrylcarnitine SCAD deficiency isobutyrlcarnitine isobutyryl dehydrogenase deficiency C5 isovalerylcarnitine isovaleric acidemia C5DC glutarylcarnitine glutaric aciduria type 1 C50H hydroxyglutarylcarnitine 3-methylcrotonylcarboxylase and 3-HMG CoA lyase deficiency C8 octanoylcarnitine MCAD deficiency C14:1 tetradecenoylcarnitine VLCAD deficiency C16 palmitoylcarnitine CPT II, carnitine translocase deficiency C180H hydroxyoctadecanoylcarnitine LCHAD, trifunctional protein deficiency Note: This list is not meant to be complete.
According to the current available published data, congenital hypothyroidism, (1) galactosaemia (2) and glutaric aciduria type 1 (3) are probably the top three treatable conditions.
Aminoacidemias and organic acidemias: Glutaric aciduria type 1.
Children with bilateral temporal arachnoid cysts may have glutaric aciduria type 1 (GAT1); operation without knowing that may be harmful.