Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: Response to riboflavin

Yoon, Hye Ran; Hahn, Si Houn; Ahn, Yohan; Jang, Seung Hun; Shin, Yoo Jin; Lee, Eunghyun; Ryu, Kyung Hwa; Eun, Baik-Lin; Rinaldo, Piero; Yamaguchi, Seiji

doi:10.1023/a:1013948409790

Cited by 16 publications

(2 citation statements)

References 3 publications

(2 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…5,6 Yoon et al conducted a therapeutic trial with riboflavin, coenzyme Q, and carnitine in 3 patients with ethylmalonic encephalopathy with some clinical improvement (eg, less diarrhea) but no biochemical improvement. 16 Another patient was treated with a methionine-restricted diet, which led to clinical and biochemical improvements, until the patient passed away from an intercurrent illness. 15 In the current report, only patient 1 was treated with riboflavin and carnitine, but this did not lead to significant biochemical or neurological improvement.…”

Section: Discussionmentioning

confidence: 99%

Clinical Heterogeneity in Ethylmalonic Encephalopathy

et al. 2009

View full text Add to dashboard Cite

Ethylmalonic encephalopathy is a recently described inborn error of metabolism characterized clinically by developmental delay and regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea. We describe monochorionic twins presenting with hypotonia in infancy and diagnosed with ethylmalonic encephalopathy on the basis of biochemical findings. They are compound heterozygote for missense mutations in ETHE1. Magnetic resonance imaging changes affecting the white matter, corpus callosum, and basal ganglia were seen in both patients. At 10 years of age, they have severe axial hypotonia but never displayed petechiae, orthostatic acrocyanosis, or chronic diarrhea. Their clinical courses differ markedly; one had an episode of coma when she was 3 years old and now has spastic quadraparesis and cannot speak. The other can freely use her upper extremities, her pyramidal syndrome being mostly limited to the lower extremities, and can speak 2 languages. These patients illustrate the clinical heterogeneity of ethylmalonic encephalopathy, even in monochorionic twins.

show abstract

Section: Discussionmentioning

confidence: 99%

Clinical Heterogeneity in Ethylmalonic Encephalopathy

et al. 2009

View full text Add to dashboard Cite

show abstract

“…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

112

103

View full text Add to dashboard Cite

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.

show abstract