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BIOCHEMICAL AND MOLECULAR DIAGNOSIS OF GLUTARIC ACIDURIA TYPE 1 IN A BLACK SOUTH AFRICAN MALE CHILD: CASE REPORT
Abstract
Glutaric aciduria type 1 (GA-1) is an inborn error o C metabolism caused by a deficiency of
the mitochondria1 enzyme glutaryl-Co enzyme A d:hydrogenase. GA-1 is not uncommon
amongst Caucasians but to the best of our knowledgt :, it has previously not been reported in
black African children. We present a case of GA-1 in a black South African boy who was
referred to hospital at the age of five years and ten 1 D months with dyskinesia and dystonia
accompanied by chorea and athetosis. Radiologica examination revealed enlarged basal
cisterns with bilateral fluid collection around the sylvian fissures suggestive of GA-1.
Analysis of urine showed raised levels of glutaric acic 1 at 520 pmoUmmol creatinine (normal
< 2.0), 3-hydroxyglutaric acid at 113 pmoUmmol crc:atinine (normal ~3.0) and a low blood
carnitine level of 31.5 pmoM (normal 35-84). A definitive diagnosis was reached through
DNA analysis which revealed homozygosity for ar A293T mutation in the glutaryl-Coenzyme
A dehydrogenase (GCDH) gene.
the mitochondria1 enzyme glutaryl-Co enzyme A d:hydrogenase. GA-1 is not uncommon
amongst Caucasians but to the best of our knowledgt :, it has previously not been reported in
black African children. We present a case of GA-1 in a black South African boy who was
referred to hospital at the age of five years and ten 1 D months with dyskinesia and dystonia
accompanied by chorea and athetosis. Radiologica examination revealed enlarged basal
cisterns with bilateral fluid collection around the sylvian fissures suggestive of GA-1.
Analysis of urine showed raised levels of glutaric acic 1 at 520 pmoUmmol creatinine (normal
< 2.0), 3-hydroxyglutaric acid at 113 pmoUmmol crc:atinine (normal ~3.0) and a low blood
carnitine level of 31.5 pmoM (normal 35-84). A definitive diagnosis was reached through
DNA analysis which revealed homozygosity for ar A293T mutation in the glutaryl-Coenzyme
A dehydrogenase (GCDH) gene.
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