glutaricaciduria

glutaricaciduria /glu·tar·ic·ac·id·uria/ (-du´re-ah)

1. an aminoacidopathy characterized by accumulation and excretion of glutaric acid; there are two types (I and II) due to different enzyme deficiencies, with a spectrum of manifestations.

2. excretion of glutaric acid in the urine.

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glutaricaciduria

[glo̅o̅tar′ikas′idyo̅o̅′rē·ə]

1 an autosomal-recessive disorder of amino acid metabolism characterized by accumulation and excretion of the dicarboxylic acid glutaric acid and occurring in two types. Type I is characterized by progressive dystonia and dyskinesia, hypoglycemia, mild ketosis and acidosis, opisthotonus, choreoathetosis, motor delay, mental retardation, hypotonia, and death within the first decade. Type II is caused by any of several related defects and is characterized by accumulation and excretion of various organic acids, hypoglycemia without ketosis, metabolic acidosis, and many phenotypic manifestations varying with the specific defect. A later age of onset is correlated with decreased severity whereas neonatal onset may be accompanied by congenital anomalies and is rapidly fatal. Type II is also called multiple acyl CoA dehydrogenation deficiency.

2 excretion of glutaric acid in the urine.