Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

A. Ribes, E. Riudor, B. Garavaglia, G. Martinez, A. Arranz, F. Invernizzi, P. Briones, E. Lamantea, M. Sentís, A. Barceló, M. Roig

Research output: Contribution to journalArticle

33 Citations (Scopus)

Abstract

Two HLA-identical twin sisters are reported, of whom one has remained essentially asymptomatic, and an episode of hypotonia and decreased level of consciousness being the only relevant clinical finding in the other. 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 fibroblasts confirmed short-chain acyl-CoA dehydrogenase deficiency. Conclusion. The lack of appropiate biochemical markers for this deficiency makes the diagnosis difficult and consequently the low number of patients described may be the result of the diagnosis.

Original languageEnglish
Pages (from-to)317-320
Number of pages4
JournalEuropean Journal of Pediatrics
Volume157
Issue number4
DOIs
Publication statusPublished - 1998

Fingerprint

Siblings
Muscle Hypotonia
Monozygotic Twins
Enzyme Assays
Consciousness
Fibroblasts
Biomarkers
Skin
Acids
Short chain Acyl CoA dehydrogenase deficiency
acylcarnitine
ethylmalonic acid

Keywords

  • Ethylmalonic aciduria
  • Mitochondrial fatty acid oxidation
  • Short-chain acyl-CoA dehydrogenase deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. / Ribes, A.; Riudor, E.; Garavaglia, B.; Martinez, G.; Arranz, A.; Invernizzi, F.; Briones, P.; Lamantea, E.; Sentís, M.; Barceló, A.; Roig, M.

In: European Journal of Pediatrics, Vol. 157, No. 4, 1998, p. 317-320.

Research output: Contribution to journalArticle

Ribes, A, Riudor, E, Garavaglia, B, Martinez, G, Arranz, A, Invernizzi, F, Briones, P, Lamantea, E, Sentís, M, Barceló, A & Roig, M 1998, 'Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency', European Journal of Pediatrics, vol. 157, no. 4, pp. 317-320. https://doi.org/10.1007/s004310050819
Ribes, A. ; Riudor, E. ; Garavaglia, B. ; Martinez, G. ; Arranz, A. ; Invernizzi, F. ; Briones, P. ; Lamantea, E. ; Sentís, M. ; Barceló, A. ; Roig, M. / Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. In: European Journal of Pediatrics. 1998 ; Vol. 157, No. 4. pp. 317-320.
@article{3ea9771651bf4246838af11b925899f9,
title = "Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency",
abstract = "Two HLA-identical twin sisters are reported, of whom one has remained essentially asymptomatic, and an episode of hypotonia and decreased level of consciousness being the only relevant clinical finding in the other. 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 fibroblasts confirmed short-chain acyl-CoA dehydrogenase deficiency. Conclusion. The lack of appropiate biochemical markers for this deficiency makes the diagnosis difficult and consequently the low number of patients described may be the result of the diagnosis.",
keywords = "Ethylmalonic aciduria, Mitochondrial fatty acid oxidation, Short-chain acyl-CoA dehydrogenase deficiency",
author = "A. Ribes and E. Riudor and B. Garavaglia and G. Martinez and A. Arranz and F. Invernizzi and P. Briones and E. Lamantea and M. Sent{\'i}s and A. Barcel{\'o} and M. Roig",
year = "1998",
doi = "10.1007/s004310050819",
language = "English",
volume = "157",
pages = "317--320",
journal = "European Journal of Pediatrics",
issn = "0340-6199",
publisher = "Springer Berlin Heidelberg",
number = "4",

}

TY - JOUR

T1 - Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

AU - Ribes, A.

AU - Riudor, E.

AU - Garavaglia, B.

AU - Martinez, G.

AU - Arranz, A.

AU - Invernizzi, F.

AU - Briones, P.

AU - Lamantea, E.

AU - Sentís, M.

AU - Barceló, A.

AU - Roig, M.

PY - 1998

Y1 - 1998

N2 - Two HLA-identical twin sisters are reported, of whom one has remained essentially asymptomatic, and an episode of hypotonia and decreased level of consciousness being the only relevant clinical finding in the other. 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 fibroblasts confirmed short-chain acyl-CoA dehydrogenase deficiency. Conclusion. The lack of appropiate biochemical markers for this deficiency makes the diagnosis difficult and consequently the low number of patients described may be the result of the diagnosis.

AB - Two HLA-identical twin sisters are reported, of whom one has remained essentially asymptomatic, and an episode of hypotonia and decreased level of consciousness being the only relevant clinical finding in the other. 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 fibroblasts confirmed short-chain acyl-CoA dehydrogenase deficiency. Conclusion. The lack of appropiate biochemical markers for this deficiency makes the diagnosis difficult and consequently the low number of patients described may be the result of the diagnosis.

KW - Ethylmalonic aciduria

KW - Mitochondrial fatty acid oxidation

KW - Short-chain acyl-CoA dehydrogenase deficiency

UR - http://www.scopus.com/inward/record.url?scp=7144263747&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=7144263747&partnerID=8YFLogxK

U2 - 10.1007/s004310050819

DO - 10.1007/s004310050819

M3 - Article

C2 - 9578969

AN - SCOPUS:7144263747

VL - 157

SP - 317

EP - 320

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

SN - 0340-6199

IS - 4

ER -