TY - JOUR
T1 - A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation
AU - Di Rocco, Maja
AU - Caruso, Ubaldo
AU - Briem, Egill
AU - Rossi, Andrea
AU - Allegri, Anna E M
AU - Buzzi, Davide
AU - Tiranti, Valeria
PY - 2006/12
Y1 - 2006/12
N2 - A child is reported presenting with a clinical picture suggestive of genetic connective tissue disorders (vascular fragility, articular hyperlaxity, delayed motor development, and normal cognitive development), an absence of pathological ethylmalonic acid excretion during inter-critical phases and a homozygous R163W mutation in the ETHE1 gene. This case suggests that ethylmalonic aciduria is not a constant biochemical marker of ethylmalonic encephalopathy and that its normal excretion outside of metabolic decompensation episodes does not exclude this metabolic disease.
AB - A child is reported presenting with a clinical picture suggestive of genetic connective tissue disorders (vascular fragility, articular hyperlaxity, delayed motor development, and normal cognitive development), an absence of pathological ethylmalonic acid excretion during inter-critical phases and a homozygous R163W mutation in the ETHE1 gene. This case suggests that ethylmalonic aciduria is not a constant biochemical marker of ethylmalonic encephalopathy and that its normal excretion outside of metabolic decompensation episodes does not exclude this metabolic disease.
KW - Articular hyperlaxity
KW - Ethylmalonic encephalopathy
KW - Vascular fragility
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U2 - 10.1016/j.ymgme.2006.05.010
DO - 10.1016/j.ymgme.2006.05.010
M3 - Article
C2 - 16828325
AN - SCOPUS:33750631826
SN - 1096-7192
VL - 89
SP - 395
EP - 397
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 4
ER -