Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Orphanet Journal of Rare Diseases

Anupam Chakrapani^1,12  Vassili Valayannopoulos^1,19  Jörn Oliver Sass^1,14  Diego Martinelli⁴  Anita MacDonald⁹  Frits Wijburg^1,15  Flemming Skovby⁶  Sabine Scholl-Bürgi^2,21  Celia Pérez-Cerdá⁷  Begoña Merinero⁷  Tomas Honzik^1,11  Stephanie Grünewald^1,10  Sarah C Grünert^1,17  Brian Fowler^1,18  Alberto Burlina^1,13  Diana Ballhausen⁵  Murielle Assoun²  Michel Hochuli^2,20  Martina Huemer^1,18  Kimberly A Chapman¹  Daniela Karall^2,21  Goknur Haliloglu⁸  Carlo Dionisi-Vici³  Friederike Hörster^1,16  Matthias R Baumgartner^1,18 

[1] Section of Genetics and Metabolism, Children¿s National Health System, Washington DC, USA;Dietician, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, Paris 75015, France;Division of Metabolism, Bambino Gesù Children¿s Research Hospital, Piazza S. Onofrio 4, Rome 00165, Italy;Division of Metabolism, Bambino Gesù Children¿s Hospital, IRCSS, Piazza S. Onofrio 4, Rome I-00165, Italy;Centre for Molecular Diseases, University Children¿s Hospital, Avenue Pierre Decker 2, Lausanne 1011, Switzerland;Department of Clinical Genetics, University Hospital, Rigshospitalet 4062, Blegdamsvej 9, Copenhagen 2100, Denmark;Centro de Diagnóstico de Enfermedades Moleculares, Facultad de Ciencias, Universidad Autónoma de Madrid, IDIPAZ, CIBER de Enfermedades Raras (CIBERER), Madrid 28049, Spain;Department of Pediatric Neurology, Hacettepe University Children¿s Hospital, Ankara, Turkey;Dietetic Department, Birmingham Children¿s Hospital, Steelhouse Lane, Birmingham B4 6NH, United Kingdom;Metabolic Unit, Great Ormond Street Hospital, Institute of Child Health, Great Ormond Street, London WC1N 3JH, UK;Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic;Department of Metabolic Medicine, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK;Department of Pediatrics, University of Padua, Via Giustiniani 3, Padova 35128, Italy;Division of Clinical Chemistry and Biochemisty, Children¿s Research Centre, University Children¿s Hospital Zurich, Steinwiesstrasse 75, Zurich, 8032, Switzerland;Department of Pediatrics, Academic Medical Center (AMC), Meibergdreef 9, Amsterdam 1105 AZ, the Netherlands;University Children¿s Hospital, Im Neuenheimer Feld 150, Heidelberg 69120, Germany;Center for Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Mathildenstr. 1, Freiburg 79106, Germany;Division of Metabolism and Children¿s Research Centre, University Children¿s Hospital Zurich, Steinwiesstrasse 75, Zurich, 8032, Switzerland;Reference Center for Inherited Metabolic Disease and IMAGINE Institute, Hôpital Necker-Enfants Malades 149, rue de Sèvres, Paris 75743, Cedex 15, France;Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland;Medical University Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Anichstrasse 35, Innsbruck 6020, Austria

关键词: Intellectual disability;    Seizures;    Movement disorder;    Metabolic stroke (-like event);    Metabolic decompensation;    Hyperammonemia;    Biotin;    Vitamin B12/adenosylcobalamin;    Propionyl-CoA carboxylase;    Methylmalonyl-CoA mutase;    Propionic aciduria;    Propionic acidemia;    Methylmalonic aciduria;    Methylmalonic acidemia;   

Others  :  1149995
DOI  :  10.1186/s13023-014-0130-8

 received in 2014-03-07, accepted in 2014-08-05,  发布年份 2014

【 摘 要 】

Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of?~?1: 50,000 and PA of?~?1:100¿000 -150,000. Patients present either shortly after birth with acute deterioration, metabolic acidosis and hyperammonemia or later at any age with a more heterogeneous clinical picture, leading to early death or to severe neurological handicap in many survivors. Mental outcome tends to be worse in PA and late complications include chronic kidney disease almost exclusively in MMA and cardiomyopathy mainly in PA. Except for vitamin B₁₂ responsive forms of MMA the outcome remains poor despite the existence of apparently effective therapy with a low protein diet and carnitine. This may be related to under recognition and delayed diagnosis due to nonspecific clinical presentation and insufficient awareness of health care professionals because of disease rarity.

These guidelines aim to provide a trans-European consensus to guide practitioners, set standards of care and to help to raise awareness. To achieve these goals, the guidelines were developed using the SIGN methodology by having professionals on MMA/PA across twelve European countries and the U.S. gather all the existing evidence, score it according to the SIGN evidence level system and make a series of conclusive statements supported by an associated level of evidence. Although the degree of evidence rarely exceeds level C (evidence from non-analytical studies like case reports and series), the guideline should provide a firm and critical basis to guide practice on both acute and chronic presentations, and to address diagnosis, management, monitoring, outcomes, and psychosocial and ethical issues. Furthermore, these guidelines highlight gaps in knowledge that must be filled by future research. We consider that these guidelines will help to harmonize practice, set common standards and spread good practices, with a positive impact on the outcomes of MMA/PA patients.

【 授权许可】

   
2014 Baumgartner et al.; licensee BioMed Central Ltd.

【 图 表 】

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