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

ABSTRACT: 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.

SUBMITTER: Baumgartner MR

PROVIDER: S-EPMC4180313 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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

Baumgartner Matthias R MR Hörster Friederike F Dionisi-Vici Carlo C Haliloglu Goknur G Karall Daniela D Chapman Kimberly A KA Huemer Martina M Hochuli Michel M Assoun Murielle M Ballhausen Diana D Burlina Alberto A Fowler Brian B Grünert Sarah C SC Grünewald Stephanie S Honzik Tomas T Merinero Begoña B Pérez-Cerdá Celia C Scholl-Bürgi Sabine S Skovby Flemming F Wijburg Frits F MacDonald Anita A Martinelli Diego D Sass Jörn Oliver JO Valayannopoulos Vassili V Chakrapani Anupam A

Orphanet journal of rare diseases 20140902

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 ...[more]

PMID: 25205257

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Project description:BackgroundOrganic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. The classic presentation in the newborn period includes metabolic acidosis, hyperlactatemia, and hyperammonemia that is precipitated by unrestricted protein intake. Implementation of newborn screening to diagnose and initiate early treatment has facilitated a reduction in neonatal mortality and improved survival. Despite early diagnosis and appropriate management, these individuals are prone to have recurrent episodes of metabolic acidosis and hyperammonemia resulting in frequent hospitalizations. Liver transplantation (LT) has been proposed as a treatment modality to reduce metabolic decompensations which are not controlled by medical management. Published reports on the outcome of LT show heterogeneous results regarding clinical and biochemical features in the post transplantation period. As a result, we evaluated the outcomes of LT in our institution and compared it to the previously published data.Study design/methodsWe performed a retrospective chart review of nine individuals with PA or MMA who underwent LT and two individuals with MMA who underwent LT and kidney transplantation (KT). Data including number of hospitalizations, laboratory measures, cardiac and neurological outcomes, dietary protein intake, and growth parameters were collected.ResultsThe median age of transplantation for subjects with MMA was 7.2 years with a median follow up of 4.3 years. The median age of transplantation for subjects with PA was 1.9 years with a median follow up of 5.4 years. The survival rate at 1 year and 5 years post-LT was 100%. Most of our subjects did not have any episodes of hyperammonemia or pancreatitis post-LT. There was significant reduction in plasma glycine post-LT. One subject developed mild elevation in ammonia post-LT on an unrestricted protein diet, suggesting that protein restriction may be indicated even after LT.ConclusionIn a large single center study of LT in MMA and PA, we show that LT may reduce the incidence of metabolic decompensation. Moreover, our data suggest that LT may be associated with reduced number of hospitalizations and improved linear growth in individuals with PA and MMA.

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

Publications

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

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