| Autor: |
Sarangi, Pradosh Kumar, Sahoo, Lulup Kumar, Mallick, Ashok Kumar, Dash, Prafulla Kumar |
| Předmět: |
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| Zdroj: |
Journal of Pediatric Neurosciences; Jan-Mar2017, Vol. 12 Issue 1, p85-86, 2p |
| Abstrakt: |
Glutaric aciduria type I (GA I) is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme glutaryl‑CoA dehydrogenase. This disorder is characterized by progressive dystonia, choreoathetosis, and dyskinesia. It is often misdiagnosed as athetoid cerebral palsy. Laboratory evaluation usually demonstrates increased urinary excretion of gluataric acid and 3‑hydroxyglutaric acid. We report a case of a 7‑year‑old boy presenting with choreoathetosis and dystonia, mimicking as choreoathetoid cerebral palsy. The presence of characteristic neuroimaging and biochemical studies led to the diagnosis of GA I. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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