Biomaterial Database

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. 2021

Patrick Forny, and Friederike Hörster, and Diana Ballhausen, and Anupam Chakrapani, and Kimberly A Chapman, and Carlo Dionisi-Vici, and Marjorie Dixon, and Sarah C Grünert, and Stephanie Grunewald, and Goknur Haliloglu, and Michel Hochuli, and Tomas Honzik, and Daniela Karall, and Diego Martinelli, and Femke Molema, and Jörn Oliver Sass, and Sabine Scholl-Bürgi, and Galit Tal, and Monique Williams, and Martina Huemer, and Matthias R Baumgartner

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.

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.

UI	MeSH Term	Description	Entries
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000592	Amino Acid Metabolism, Inborn Errors	Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.	Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy
D056693	Propionic Acidemia	Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.	Glycinemia, Ketotic,Ketotic Glycinemia,Ketotic Hyperglycinemia,PCC Deficiency,Propionicacidemia,Propionyl-CoA Carboxylase Deficiency,Acidemia Propionic,Hyperglycinemia With Ketoacidosis And Leukopenia,Propionic Aciduria,Propionicaciduria,Acidemia Propionics,Acidemia, Propionic,Aciduria, Propionic,Carboxylase Deficiencies, Propionyl-CoA,Carboxylase Deficiency, Propionyl-CoA,Deficiencies, Propionyl-CoA Carboxylase,Deficiency, PCC,Deficiency, Propionyl-CoA Carboxylase,Glycinemias, Ketotic,Hyperglycinemia, Ketotic,Hyperglycinemias, Ketotic,Ketotic Glycinemias,Ketotic Hyperglycinemias,PCC Deficiencies,Propionic Acidemias,Propionic Acidurias,Propionic, Acidemia,Propionicacidemias,Propionicacidurias,Propionyl CoA Carboxylase Deficiency,Propionyl-CoA Carboxylase Deficiencies
D019468	Disease Management	A broad approach to appropriate coordination of the entire disease treatment process that often involves shifting away from more expensive inpatient and acute care to areas such as preventive medicine, patient counseling and education, and outpatient care. This concept includes implications of appropriate versus inappropriate therapy on the overall cost and clinical outcome of a particular disease. (From Hosp Pharm 1995 Jul;30(7):596)	Disease Managements,Management, Disease,Managements, Disease