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Titolo:
L-2-HYDROXYGLUTARIC ACIDURIA - CLINICAL HETEROGENEITY VERSUS BIOCHEMICAL HOMOGENEITY IN A SIBSHIP
Autore:
DEKLERK JBC; HUIJMANS JGM; STROINK H; ROBBEN SGF; JAKOBS C; DURAN M;
Indirizzi:
ERASMUS UNIV ROTTERDAM,SOPHIA CHILDRENS HOSP,DEPT PEDIAT,DR MOLEWATERPLEIN 60 NL-3015 GJ ROTTERDAM NETHERLANDS ERASMUS UNIV ROTTERDAM,SOPHIA CHILDRENS HOSP,DEPT CLIN GENET ROTTERDAM NETHERLANDS ERASMUS UNIV ROTTERDAM,SOPHIA CHILDRENS HOSP,DEPT CHILD NEUROL ROTTERDAM NETHERLANDS ERASMUS UNIV ROTTERDAM,SOPHIA CHILDRENS HOSP,DEPT RADIOL ROTTERDAM NETHERLANDS FREE UNIV AMSTERDAM,DEPT CLIN CHEM AMSTERDAM NETHERLANDS UNIV UTRECHT,WILHELMINA CHILDRENS HOSP UTRECHT NETHERLANDS
Titolo Testata:
Neuropediatrics
fascicolo: 6, volume: 28, anno: 1997,
pagine: 314 - 317
SICI:
0174-304X(1997)28:6<314:LA-CHV>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
CANAVAN DISEASE; ACIDEMIA; DEHYDROGENASE; DEFICIENCY; DIAGNOSIS;
Keywords:
L-2-HYDROXYGLUTARIC ACIDURIA; MRI ABNORMALITIES OF CEREBELLUM; CEREBROSPINAL FLUID AMINO ACIDS;
Tipo documento:
Article
Natura:
Periodico
Citazioni:
15
Recensione:
Indirizzi per estratti:
Citazione:
J.B.C. Deklerk et al., "L-2-HYDROXYGLUTARIC ACIDURIA - CLINICAL HETEROGENEITY VERSUS BIOCHEMICAL HOMOGENEITY IN A SIBSHIP", Neuropediatrics, 28(6), 1997, pp. 314-317

Abstract

Three out of four sibs in a North-African family were affected with L-2-hydroxyglutaric aciduria. The youngest sib was most severely handicapped: she was diagnosed at 2.5 years of age, whereas the then 7- and 10-year-old siblings had a less pronounced psychomotor retardation. All patients had an increased head circumference in contrast to the healthy, non-affected sibling. Urine and plasma levels of L-2-hydroxyglutaric acid in the three sibs were similar and showed only a small variation. Magnetic resonance imaging (MRI) of the brain in the eldest sib showed hyperintense signal on T-2-weighted images of the basal ganglia,dentate nucleus and subcortical white matter. The youngest sib showedidentical white matter abnormalities of the corpus medullare cerebelli, These abnormalities were consistent with demyelination and/or spongiosis. On two occasions cerebrospinal fluid amino acid chromatography in the youngest sib showed an increased concentration of lysine and a decreased level of glutamine. Plasma lysine was normal. It is concluded that L-2-hydroxyglutaric aciduria is almost invariably associated with neurological disease; the severity of the symptoms does not seem tobe completely dependent on the extent of the biochemical abnormalities and may even be variable within a family.

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Documento generato il 29/09/20 alle ore 13:28:12