Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases
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- Published online on: December 28, 2016 https://doi.org/10.3892/etm.2016.4007
- Pages: 560-566
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Copyright: © Zhang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
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Abstract
The aim of the present study was to investigate the clinical, biochemical and genetic mutation characteristics of two cases of late-onset glutaric aciduria type I (GA‑I) in Uighur. The clinical data and glutaryl-CoA dehydrogenase (GCDH) genetic test results of two cases of late‑onset GA‑I in Uighur were collected and analyzed, and reviewed with relevant literature. One patient with late‑onset GA‑I primarily exhibited clinical intermittent headache, while the other patient was asymptomatic. The urinary organic acid analysis detected a large number of glutaric acid and 3‑hydroxy glutaric acid, 3-hydroxy‑propionic acid. One patient exhibited white matter degeneration in cranial magnetic resonance imaging (MRI) and the other patient showed no abnormality. The two patients both exhibited c. 1204C >T, p.R402W, heterozygous mutation, and c. 532G >A, p.G178R, heterozygous mutation. Besides central nervous system infectious diseases, patients with clinical headache, cranial MRI‑suggested bilateral temporal lobe arachnoid cyst and abnormal signals in the basal ganglia should be highly suspected as late-onset GA‑I. Early diagnosis and correct treatment are key to improve its prognosis.
