Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy

Five infants from 3 families, one Egyptian, two Yemeni, are described with a progressive encephalopathy, four of whom have been studied in detail. All patients showed vascular lesions of the skin, characterized by waxing and waning petechiae and ecchymoses. Acrocyanosis was present in three patients...

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Veröffentlicht in:	Brain & development (Tokyo. 1979) 1994-11, Vol.16, p.12-22
Hauptverfasser:	Ozand, P.T., Rashed, M., Millington, D.S., Sakati, N., Hazzaa, S., Rahbeeni, Z., Al Odaib, A., Youssef, N., Mazrou, A., Gascon, G.G., Brismar, J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis - metabolism Biological and medical sciences Brain Edema - diagnostic imaging Brain Edema - pathology Central nervous system disease Errors of metabolism Ethylmalonic aciduria Female Fibroblasts - metabolism Gas Chromatography-Mass Spectrometry Humans Infant Infant, Newborn Isoleucine metabolism Lipids (lysosomal enzyme disorders, storage diseases) Magnetic Resonance Imaging Male Malonates - urine Mass Spectrometry Medical sciences Metabolic diseases Metabolism, Inborn Errors - pathology Metabolism, Inborn Errors - urine Nervous System Diseases - congenital Nervous System Diseases - diagnostic imaging Nervous System Diseases - pathology Organic acidemia Pedigree Short-chain fatty acid oxidation Tomography, X-Ray Computed Vascular Diseases - congenital Vascular Diseases - diagnostic imaging Vascular Diseases - pathology Vasculopathy
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