PMID- 12199454
OWN - NLM
STAT- MEDLINE
DCOM- 20021017
LR  - 20190922
IS  - 0012-835X (Print)
IS  - 0012-835X (Linking)
VI  - 78
IP  - 12
DP  - 2001 Dec
TI  - Biochemical and molecular diagnosis of glutaric aciduria type 1 in a black South 
      African male child: case report.
PG  - 682-5
AB  - Glutaric aciduria type 1 (GA-1) is an inborn error of metabolism caused by a 
      deficiency of the mitochondrial enzyme glutaryl-Co enzyme A dehydrogenase. GA-1 
      is not uncommon amongst Caucasians but to the best of our knowledge, 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 10 months with dyskinesia and dystonia accompanied by chorea and 
      athetosis. Radiological 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 acid at 520 micromol/mmol 
      creatinine (normal <2.0), 3-hydroxyglutaric acid at 113 micromol/mmol creatinine 
      (normal <3.0) and a low blood carnitine level of 31.5 micromol/l (normal 35-84). 
      A definitive diagnosis was reached through DNA analysis which revealed 
      homozygosity for an A293T mutation in the glutaryl-Co-enzyme A dehydrogenase 
      (GCDH) gene.
FAU - Ojwang, P J
AU  - Ojwang PJ
AD  - School of Pathology and Laboratory Medicine, Department of Chemical Pathology, 
      Faculty of Medicine, University of Natal, Congella, Durban, South Africa.
FAU - Pegoraro, R J
AU  - Pegoraro RJ
FAU - Deppe, W M
AU  - Deppe WM
FAU - Sankar, R
AU  - Sankar R
FAU - McKerrow, N
AU  - McKerrow N
FAU - Varughese, L
AU  - Varughese L
FAU - Stoker, A F
AU  - Stoker AF
FAU - Goodman, S I
AU  - Goodman SI
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Kenya
TA  - East Afr Med J
JT  - East African medical journal
JID - 0372766
RN  - 0 (Glutarates)
RN  - H849F7N00B (glutaric acid)
SB  - IM
MH  - Amino Acid Metabolism, Inborn Errors/*diagnosis/genetics
MH  - Child, Preschool
MH  - Glutarates/*metabolism
MH  - Humans
MH  - Male
MH  - Sequence Analysis, DNA
EDAT- 2002/08/30 10:00
MHDA- 2002/10/18 04:00
CRDT- 2002/08/30 10:00
PHST- 2002/08/30 10:00 [pubmed]
PHST- 2002/10/18 04:00 [medline]
PHST- 2002/08/30 10:00 [entrez]
AID - 10.4314/eamj.v78i12.8941 [doi]
PST - ppublish
SO  - East Afr Med J. 2001 Dec;78(12):682-5. doi: 10.4314/eamj.v78i12.8941.