Dietary practices in methylmalonic acidaemia: a European survey

Pinto, Alex; Evans, Sharon; Daly, Anne; Almeida, Manuela Ferreira de; Assoun, M.; Bélanger-Quintana, Amaya; Bernabei, S.; Bollhalder, S.; Cassiman, David; Champion, H.; Chan, Heidi; Corthouts, K.; Dalmau, Jaime; Boer, Foekje de; Laet, Corinne De; Meyer, A. De; Desloovere, An; Dianin, Alice; Dixon, Marjorie; Dokoupil, Katharina; Dubois, Sandrine; Eyskens, François; Faria, Ana; Fasan, Ilaria; Favre, Elisabeth; Feillet, François; Fekete, Anna; Gallo, G.; Gingell, C.; Gribben, Joanna; Hansen, Kit Kaalund; Horst, Nienke Ter; Jankowski, C.M.; Janssen-Regelink, R.; Jones, I.; Jouault, C.; Kahrs, G.E.; Kok, Irene L.; Kowalik, Agnieszka; Laguerre, C.; Verge, S. Le; Liguori, A.; Lilje, R.; Maddalon, Cornelia; Mayr, Doris; Meyer, U.; Micciche, A.; Och, Ulrike; Robert, M.; Rocha, Júlio César; Rogozinski, H.; Rohde, Carmen; Ross, Kathleen; Saruggia, I.; Schlune, Andrea; Singleton, Kath; Sjoqvist, E.; Skeath, Rachel; Stølen, Linn Helene; Terry, A.; Timmer, Corrie; Tomlinson, Lyndsey; Tooke, A.; Kerckhove, K. Vande; Dam, Esther van; Hurk, Dorine van den; Ploeg, Liesbeth van der; Driessche, Marleen Van den; Rijn, M. van; Wegberg, Annemiek M. J. van; Vasconcelos, Carla Maria Lins de; Vestergaard, Helle; Vitoria, Isidro; Webster, Diana; White, Fiona J.; White, Lucy; Zweers, H.; MacDonald, Anita

doi:10.1515/jpem-2019-0277

Cited by 8 publications

(9 citation statements)

References 20 publications

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“…There is no evidence in MMA and PA, but it may be considered, that energy requirements might be lower in patients after a metabolic stroke with subsequent reduced mobility. Implementation of tube feeding can ensure adequate nutrition and energy intake in a selected group of MMA and PA patients 59,60 …”

Section: Guidelinesmentioning

confidence: 99%

“…Use of PFAAs is common practice in some centres with a variable prescription regarding percentage of total protein intake 33,60,203,209‐211,215 . However, PFAAs are low in valine and isoleucine but high in leucine content and can result in low plasma isoleucine and valine levels and iatrogenic amino acid deficiencies associated with adverse growth outcomes 206 .…”

Section: Guidelinesmentioning

confidence: 99%

“…Implementation of tube feeding can ensure adequate nutrition and energy intake in a selected group of MMA and PA patients. 59,60 Further, the role of upcoming therapies, such as mRNA therapy or other gene therapy approaches, on metabolic stability and other outcome parameters will need to be defined. [61][62][63][64][65] Recommendation #6.…”

Section: Metabolic Stabilitymentioning

confidence: 99%

“…208 Use of PFAAs is common practice in some centres with a variable prescription regarding percentage of total protein intake. 33,60,203,[209][210][211]215 However, PFAAs are low in valine and isoleucine but high in leucine content and can result in low plasma isoleucine and valine levels and iatrogenic amino acid deficiencies associated with adverse growth outcomes. 206 The height z-score seems positively correlated with natural-protein-to-energy prescription ratio and plasma L-valine and L-arginine levels, while negatively associated with the amount of PFAAs.…”

Section: Growthmentioning

confidence: 99%

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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Forny

Hörster

Ballhausen³

et al. 2021

J of Inher Metab Disea

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162

207

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Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first time. The article received considerable attention, illustrating the importance of an expert panel to evaluate and compile recommendations to guide rare disease patient care. Since that time, a growing body of evidence on transplant outcomes in MMA and PA patients and use of precursor free amino acid mixtures allows for updates of the guidelines. In this article, we aim to incorporate this newly published knowledge and provide a revised version of the guidelines. The analysis was performed by a panel of multidisciplinary health care experts, who followed an updated guideline development methodology (GRADE). Hence, the full body of evidence up until autumn 2019 was re‐evaluated, analysed and graded. As a result, 21 updated recommendations were compiled in a more concise paper with a focus on the existing evidence to enable well‐informed decisions in the context of MMA and PA patient care.

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Section: Guidelinesmentioning

confidence: 99%

Section: Guidelinesmentioning

confidence: 99%

Section: Metabolic Stabilitymentioning

confidence: 99%

Section: Growthmentioning

confidence: 99%

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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Forny

Hörster

Ballhausen³

et al. 2021

J of Inher Metab Disea

Self Cite

162

207

View full text Add to dashboard Cite

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“…Restriction of natural protein, a source of methylmalonic acid precursors, is individually modified, depending on the severity and clinical course of the disease. The experience and approach to MMA treatment in European centers is variable with different amounts of natural protein with or without precursor-free L-amino acids being prescribed [3,4]. Overall, outcome appears independent of the use of precursor free L-amino acids and recent reports even suggest adverse effects associated with high leucine containing precursor free L-amino acid formula in MMA [5].…”

Section: Introductionmentioning

confidence: 99%

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria

Kowalik¹,

MacDonald

Sykut-Cegielska³

2021

Medicina

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Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity and clinical course of the disease. The experience and approach to MMA treatment in European centers is variable with different amounts of natural protein and precursor-free l-amino acids being prescribed, although the outcome appears independent of the use of precursor-free l-amino acids. Further long-term outcome data is necessary for early treated patients with MMA. This case study, a woman with MMA followed from birth to the age of 35 years, including pregnancy, illustrates the long-term course of the disease and lifetime changes in dietary treatment. A low natural protein diet (1.5 g–1.0 g/kg/day) was the foundation of treatment, but temporary supplementation with precursor-free l-amino acids, vitamin-mineral mixture, and energy supplements were necessary at different timepoints (in childhood, adolescence, adulthood and pregnancy). Childhood psychomotor development was slightly delayed but within the normal range in adulthood. There were few episodes of metabolic decompensation requiring IV glucose, but at age 27 years, she required intensive care following steroid treatment. In pregnancy, she remained stable but received intensive biochemical and medical follow-up. This successful long-term follow-up of a patient with MMA from childhood, throughout pregnancy, delivery, and postpartum confirms that careful clinical, biochemical, and dietetic monitoring is crucial to ensure a favourable outcomes in MMA. Personalized treatment is necessary according to the individual clinical course. Knowledge about long-term treatment and clinical outcome is important information to influence future MMA clinical guidelines.

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How guideline development has informed clinical research for organic acidurias (et vice versa)

Forny

Hörster

Baumgartner

et al. 2023

J of Inher Metab Disea

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Organic acidurias, such as glutaric aciduria type 1 (GA1), methylmalonic (MMA), and propionic aciduria (PA) are a prominent group of inherited metabolic diseases involving accumulation of eponymous metabolites causing endogenous intoxication. For all three conditions, guidelines for diagnosis and management have been developed and revised over the last years, resulting in three revisions for GA1 and one revision for MMA/PA. The process of clinical guideline development in rare metabolic disorders is challenged by the scarcity and limited quality of evidence available. The body of literature is often fragmentary and where information is present, it is usually derived from small sample sizes. Therefore, the development of guidelines for GA1 and MMA/PA was initially confronted with a poor evidence foundation that hindered formulation of concrete recommendations in certain contexts, triggering specific research projects and initiation of longitudinal, prospective observational studies using patient registries. Reversely, these observational studies contributed to evaluate the value of newborn screening, phenotypic diversities, and treatment effects, thus significantly improving the quality of evidence and directly influencing formulation and evidence levels of guideline recommendations. Here, we present insights into interactions between guideline development and (pre)clinical research for GA1 and MMA/PA, and demonstrate how guidelines gradually improved from revision to revision. We describe how clinical studies help to unravel the relative impact of therapeutic interventions on outcome and conclude that despite new and better quality of research data over the last decades, significant shortcomings of evidence regarding prognosis and treatment remain. It appears that development of clinical guidelines can directly help to guide research, and vice versa.

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Dietary practices in methylmalonic acidaemia: a European survey

Cited by 8 publications

References 20 publications

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria

How guideline development has informed clinical research for organic acidurias (et vice versa)

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