Riboflavin responsive ethylmalonic‐adipic aciduria in a 9‐month‐old boy with liver cirrhosis, myopathy and encephalopathy

Brivet, M.; Tardieu, Marc; Khellaf, A.; Boutron, Audrey; Rocchiccioli, F.; Haengeli, C. A.; Lemonnier, A

doi:10.1007/bf01811696

Cited by 5 publications

(2 citation statements)

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“…Molecular analysis performed in EE patients excluded the presence of susceptibility SCAD variations [17] indicating that EE is a different metabolic disorder. Finally, EMA can be also observed in patients with glutaric aciduria type II (electron transfer flavoprotein deficiency) [1,3,11]. We report on the clinical and MRI findings of two further patients affected by EE.…”

Section: Introductionmentioning

confidence: 86%

Ethylmalonic encephalopathy

Grosso

Mostardini

Farnetani

et al. 2002

Journal of Neurology

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Ethylmalonic encephalopathy (EE) is a rare metabolic disorder with an autosomal recessive mode of inheritance that is clinically characterized by neuromotor delay, hyperlactic acidemia, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. Increased urinary levels of ethylmalonic acid and methylsuccinic acid are the main biochemical features of the disorder. We report on two patients affected by EE who showed different clinical and neuroradiological patterns. Patient 1 presented with a chronic clinical course characterized by very slow neuromotor deterioration, ataxia, and dysarthria. In contrast, patient 2 had an acute neonatal onset with severe neuromotor retardation, severe generalized hypotonia, and intractable seizures. Neuroradiological follow-up of patient 1 detected a diffuse hyperintensity on the T2 images at the basal ganglia which remained stable during a period of four years. Patient 2, in contrast, showed a rapid process of cerebral, and in part, cerebellar atrophy. On the basis of our observations, we reviewed the data published in the literature and tried to delineate the natural history of EE, which appears to be characterized by a wide spectrum of severity in the clinical course. No reports on neuroradiological follow-up of EE patients are available in the literature with which to compare our data. Finally, both patients showed a muscle COX deficiency. The pathogenetic implications of such a biochemical finding will be also discussed.

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Section: Introductionmentioning

confidence: 86%

Ethylmalonic encephalopathy

Grosso

Mostardini

Farnetani

et al. 2002

Journal of Neurology

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“…Bei Patienten mit rein myopathischen Verlaufsformen konnte neben einer Steigerung der Muskelkraft und der motorischen Ausdauer ein z. T. vollstä ndiger Rü ckgang der Ragged red fibers und der Lipidspeicherphä nomene in Muskelbiopsaten und ein Anstieg der Komplex I-Aktivitä ten (teilweise bis in den Normalbereich) beobachtet werden [7][8][9]59]. Bei Patienten mit enzephalomyopathischen Verlä ufen waren die positiven Effekte meist partiell und vorü bergehend [12,31], bei 1 Patienten mit ME-LAS-assoziiertem Komplex I-Defekt ging die kombinierte Therapie von Riboflavin und Nikotinamid mit einer Verbesserung der zuvor abnormen N.-suralis-Nervenleitgeschwindigkeit einher [55].…”

Section: Riboflavin (Vitamin B 2 )unclassified