Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation

Rosa, Joana; Fraga, Ana Beatriz; Carvalho, Rita de; Maia, Ana Lucia Rosa e Silva; Rodrigues, Ana Luísa; Gomes, Maria Fernanda Pereira

doi:10.1002/ccr3.1509

Cited by 5 publications

(5 citation statements)

References 6 publications

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“…Skin problems, often described as acrodermatitis dysmetabolica, are described in both PA and MMA patients (Figure , ST1) and also in patients with other organic acidemias. It is presumed to be the result of an isolated isoleucine deficiency since symptoms can resolve quickly upon isoleucine supplementation, but it has also be considered the result of a more complex multideficiency syndrome . In one patient with MMA, erythema nodosum is described, which resolved in a few days upon high dose vitamin B12 treatment and in one patient with PA, necrolytic migratory erythema is described, which is considered to be the result of zinc deficiency in this patient…”

Section: Complicationsmentioning

confidence: 88%

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

Haijes

Jans

Tas

et al. 2019

J of Inher Metab Disea

127

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Over the last decades, advances in clinical care for patients suffering from propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) have resulted in improved survival. These advances were possible thanks to new pathophysiological insights. However, patients may still suffer from devastating complications which largely determine the unsatisfying overall outcome. To optimize our treatment strategies, better insight in the pathophysiology of complications is needed. Here, we perform a systematic data‐analysis of cohort studies and case‐reports on PA and MMA. For each of the prevalent and rare complications, we summarize the current hypotheses and evidence for the underlying pathophysiology of that complication. A common hypothesis on pathophysiology of many of these complications is that mitochondrial impairment plays a major role. Assuming that complications in which mitochondrial impairment may play a role are overrepresented in monogenic mitochondrial diseases and, conversely, that complications in which mitochondrial impairment does not play a role are underrepresented in mitochondrial disease, we studied the occurrence of the complications in PA and MMA in mitochondrial and other monogenic diseases, using data provided by the Human Phenotype Ontology. Lastly, we combined this with evidence from literature to draw conclusions on the possible role of mitochondrial impairment in each complication. Altogether, this review provides a comprehensive overview on what we, to date, do and do not understand about pathophysiology of complications occurring in PA and MMA and about the role of mitochondrial impairment herein.

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Section: Complicationsmentioning

confidence: 88%

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

Haijes

Jans

Tas

et al. 2019

J of Inher Metab Disea

127

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“…However, maintaining an adequate supply of amino acids in proteinrestricted diets is critical. Indeed, a disease called Acrodermatitis dysmetabolica (AD) may develop due to isoleucine deficiency, if the restriction is performed aggressively (197)(198)(199). In the literature, it was described that AD is mainly seen because of isoleucine deficiency.…”

Section: Clinical Significancementioning

confidence: 99%

“…In the literature, it was described that AD is mainly seen because of isoleucine deficiency. As such, increasing the isoleucine dose improved clinical manifestations of AD (197)(198)(199). Currently, the exact pathogenesis underlying AD is not well known.…”

Section: Clinical Significancementioning

confidence: 99%

Immunometabolism – The Role of Branched-Chain Amino Acids

Yahsi

Günaydın

2022

Front. Immunol.

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Immunometabolism has been the focus of extensive research over the last years, especially in terms of augmenting anti-tumor immune responses. Regulatory T cells (Tregs) are a subset of CD4+ T cells, which have been known for their immunosuppressive roles in various conditions including anti-tumor immune responses. Even though several studies aimed to target Tregs in the tumor microenvironment (TME), such approaches generally result in the inhibition of the Tregs non-specifically, which may cause immunopathologies such as autoimmunity. Therefore, specifically targeting the Tregs in the TME would be vital in terms of achieving a successful and specific treatment. Recently, an association between Tregs and isoleucine, which represents one type of branched-chain amino acids (BCAAs), has been demonstrated. The presence of isoleucine seems to affect majorly Tregs, rather than conventional T cells. Considering the fact that Tregs bear several distinct metabolic features in the TME, targeting their immunometabolic pathways may be a rational approach. In this Review, we provide a general overview on the potential distinct metabolic features of T cells, especially focusing on BCAAs in Tregs as well as in their subtypes.

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“…However, it results from deficiency of essential amino acids and fatty acids rather than zinc. 1 , 2 Maple syrup urine disease (MSUD) is an autosomal recessive inborn error of metabolism caused by a defect in the branched-chain alpha-ketoacid dehydrogenase (BCKDH) which breaks down the branched-chain amino acids (BCAA) leucine, isoleucine, and valine, and branched chain keto-acids (BCKA). 3 Failure to break down BCAA and BCKA lead to their accumulation, subsequently resulting in ketoacidosis, neurological disorders, developmental disturbances, and cutaneous manifestation.…”

Section: Introductionmentioning

confidence: 99%

Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease

et al. 2023

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Acrodermatitis dysmetabolica (AD) describes eruptions characterized by the clinical triad of acral dermatitis, diarrhea, and alopecia. AD can be caused by various metabolic disorders one of which is maple syrup urine disease (MSUD). We present a 2-month-old boy diagnosed with MSUD by the age of 5 days and treated with branched-chain amino acid (BCAA) restricted diet, BCAAs formula, and thiamine supplementation. He was referred to dermatology with a 3-week history of diarrhea, progressive acrodermatitis enteropathica like cutaneous eruption and hair loss over the scalp treated with topical mometasone ointment, isoleucine supplementation and leucine restriction. Complete resolution of skin eruption was achieved by 4 weeks, which correlates with normalization of BCAA levels based on close monitoring of biochemical lab values and growth. This case emphasizes the dangers of limiting BCAA intake when treating MSUD, as well as the importance of close monitoring during the amino acid depleting period of growth.

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Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation

Cited by 5 publications

References 6 publications

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

Immunometabolism – The Role of Branched-Chain Amino Acids

Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease

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