MILD OR ABSENT CLINICAL SIGNS IN TWIN SISTERS WITH SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY

Citation
A. Ribes et al., MILD OR ABSENT CLINICAL SIGNS IN TWIN SISTERS WITH SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, European journal of pediatrics, 157(4), 1998, pp. 317-320
Citations number
24
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Pediatrics
ISSN journal
0340-6199
Volume
157
Issue
4
Year of publication
1998
Pages
317 - 320
Database
ISI
SICI code
0340-6199(1998)157:4<317:MOACSI>2.0.ZU;2-V
Abstract
Two HLA-identical twin sisters are reported, of whom one has remained essentially asymptomatic, and an episode of hypotonia and decreased le vel of conciousness being the only relevant clinical finding in the ot her. Organic acid analysis revealed that ethylmalonate was constantly, although sometimes only slightly, increased. No abnormal acylglycines or acylcarnitines could be detected. Enzyme assay in cultured skin fi broblasts confirmed short-chain acyl-CoA dehydrogenase deficiency. Con clusion The lack of appropriate biochemical markers for this deficienc y makes the diagnosis difficult and consequently, the low number of pa tients described may be the result of underdiagnosis.