A severe case of encephalopathy with ethylmalonic aciduria and generalized vasculopathy

Hack, A.; Klein, Kenneth M.; Wössner, R.; Kress, W; Hm, Strassburg

doi:10.1055/s-2008-1079541

Cited by 2 publications

(1 citation statement)

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“…A resemblance of some EE biochemical features with ACADs and complex IV deficiency may have encouraged treatment with riboflavin. While some reports find no effect of riboflavin [98,[100][101][102][103][104][105][106][107], a number of reports suggest some level of positive effect [99,[108][109][110][111][112]. However, the therapeutic effect of riboflavin is difficult to interpret since most studies have used riboflavin in combination with other vitamins or cofactors.…”

Section: Ethylmalonic Encephalopathymentioning

confidence: 99%

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

Mosegaard

Dipace

Bross

et al. 2020

IJMS

126

103

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As an essential vitamin, the role of riboflavin in human diet and health is increasingly being highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and population studies, even in non-developing countries with abundant sources of riboflavin-rich dietary products. A latent subclinical riboflavin deficiency can result in a significant clinical phenotype when combined with inborn genetic disturbances or environmental and physiological factors like infections, exercise, diet, aging and pregnancy. Riboflavin, and more importantly its derivatives, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), play a crucial role in essential cellular processes including mitochondrial energy metabolism, stress responses, vitamin and cofactor biogenesis, where they function as cofactors to ensure the catalytic activity and folding/stability of flavoenzymes. Numerous inborn errors of flavin metabolism and flavoenzyme function have been described, and supplementation with riboflavin has in many cases been shown to be lifesaving or to mitigate symptoms. This review discusses the environmental, physiological and genetic factors that affect cellular riboflavin status. We describe the crucial role of riboflavin for general human health, and the clear benefits of riboflavin treatment in patients with inborn errors of metabolism.

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Section: Ethylmalonic Encephalopathymentioning

confidence: 99%

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

Mosegaard

Dipace

Bross

et al. 2020

IJMS

126

103

View full text Add to dashboard Cite

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Ethylmalonic encephalopathy associated with crescentic glomerulonephritis

Dweikat¹,

Naser²,

Damsah³

et al. 2012

Metab Brain Dis

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Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder caused by mutations in the ETHE1 gene and characterized by chronic diarrhea, encephalopathy, relapsing petechiae and acrocyanosis. Nephrotic syndrome has been described in an infant with EE but the renal histology findings were not described in previous reports. We report a Palestinian girl with EE who presented with chronic diarrhea, encephalopathy, petechial rash and acrocyanosis. Subsequently, she developed progressive deterioration of renal function caused by rapidly progressive glomerulonephritis resulting in death within few days. This is, to our knowledge, the first reported occurrence of rapidly progressive glomerulonephritis in a child with ethylmalonic encephalopathy. Its presence is a serious complication associated with poor prognosis and may be explained by the diffuse vascular damage.

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A severe case of encephalopathy with ethylmalonic aciduria and generalized vasculopathy

Cited by 2 publications

References 0 publications

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

Ethylmalonic encephalopathy associated with crescentic glomerulonephritis

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