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

ABSTRACT: 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.

SUBMITTER: Forny P

PROVIDER: S-EPMC8252715 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature

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

Forny Patrick P Hörster Friederike F Ballhausen Diana D Chakrapani Anupam A Chapman Kimberly A KA Dionisi-Vici Carlo C Dixon Marjorie M Grünert Sarah C SC Grunewald Stephanie S Haliloglu Goknur G Hochuli Michel M Honzik Tomas T Karall Daniela D Martinelli Diego D Molema Femke F Sass Jörn Oliver JO Scholl-Bürgi Sabine S Tal Galit G Williams Monique M Huemer Martina M Baumgartner Matthias R MR

Journal of inherited metabolic disease 20210309 3

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 an ...[more]

PMID: 33595124

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Project description:Methylmalonic acidaemia (MMA) has been reported to be associated with cardiovascular involvement, especially for the combined type with homocystinuria. We have screened 80 control subjects and 99 MMA patients (23 isolated type and 76 combined type) using electrocardiograph and echocardiography. 32 cases (34%) of ECG changes were found including sinus tachycardia (n = 11), prolonged QTc interval (n = 1), I-degree atrioventricular block (n = 1), left axis deviation (n = 5) and T wave change (n = 14). By echocardiography, 8 cases of congenital heart disease were found in 4 combined MMA patients (5.3%) including ventricular septal defect (n = 2), atrial septal defect (n = 3), patent ductus arteriosus (n = 1) and coronary artery-pulmonary artery fistula (n =2). Pulmonary hypertension (n = 2) and hypertrophic cardiomyopathy (n = 1) in combined subtype were also noted. Moreover, echocardiographic parameters were analyzed by multiple regression to clarify the influence of different subtypes on cardiac function. It was found that the left ventricular mass index (LVMI) was significantly reduced only in combined subtype [R = -3.0, 95%CI (-5.4, -0.5), P = 0.017]. For left ventricle, the mitral E' velocity was significantly reduced [isolated type: R = -1.8, 95%CI (-3.3, -0.4), P = 0.016; combined type: R = -2.5, 95%CI (-3.5, -1.5), P < 0.001], the global longitudinal strain (GLS) was the same [isolated type: R = -1.4, 95%CI (-2.3, -0.4), P = 0.007; Combined type: R = -1.1, 95%CI (-1.8, -0.4), P = 0.001], suggesting weakened left ventricular diastolic and systolic functions in both subtypes. For right ventricle, only in combined subtype, the tricuspid E' velocity was significantly reduced [R = -1.4, 95%CI (-2.6, -0.2), P = 0.021], and the tricuspid annular plane systolic excursion (TAPSE) was the same [R = -1.3, 95%CI (-2.3, -0.3), P=0.013], suggesting impaired right ventricular systolic and diastolic function. In conclusion, isolated and combined types showed different pattern of cardiac dysfunction, specifically the former only affected the left ventricle while the latter affected both ventricles. And it is necessary to perform echocardiographic screening and follow up in both MMA subtypes.

Dataset Information

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

Publications

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

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