Cardiac Disease in Methylmalonic Acidemia

Prada, Carlos E.; Jasmi, Fatma Al; Kirk, Edwin P.; Hopp, Maxwell; Jones, Owen D.; Leslie, Nancy; Burrow, T.

doi:10.1016/j.jpeds.2011.06.005

Cited by 40 publications

(34 citation statements)

References 10 publications

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“…This patient had the most severe phenotype among the cblB patients. So far, only 3 patients with isolated MMA, 2 with mut 0 and 1 with cblB, have been reported to have cardiomyopathy [28]. This indicates that cardiomyopathy is a complication which could occur in MMA patients, especially those with severe subtypes, and that the cardiac sequelae should be monitored as it is in cases of propionic acidemia [29].…”

Section: Mmab Mutations and Phenotypes Of The Cblb Patientsmentioning

confidence: 99%

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia

Vatanavicharn

Champattanachai

Liammongkolkul

et al. 2012

Molecular Genetics and Metabolism

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Section: Mmab Mutations and Phenotypes Of The Cblb Patientsmentioning

confidence: 99%

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia

Vatanavicharn

Champattanachai

Liammongkolkul

et al. 2012

Molecular Genetics and Metabolism

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“…Basal ganglia infarction (mainly involving the globi palladi), pancreatitis, bone marrow suppression, and death can occur. Long-term morbidities include kidney failure, cardiomyopathy, poor growth, optic neuropathy, and developmental delay (Manoli and Venditti 2010; Baumgartner and Viardot 1995; Hörster et al 2007; Traber et al 2011; Prada at al 2011; Williams et al 2009). …”

Section: Introductionmentioning

confidence: 99%

A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut⁰ methylmalonic acidemia

Vernon

Sperati

King

et al. 2014

J of Inher Metab Disea

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End stage kidney disease is a well-known complication of methylmalonic acidemia (MMA), and can be treated by dialysis, kidney transplant, or combined kidney-liver transplant. While liver and/or kidney transplantation in MMA may reduce the risk of metabolic crisis and end-organ disease, it does not fully prevent disease-related complications. We performed detailed metabolite and kinetic analyses in a 28-year-old patient with mut0MMA who underwent hemodialysis for 6 months prior to receiving a combined liver/kidney transplant. A single hemodialysis session led to a 54% reduction in plasma methylmalonic acid and yielded a plasma clearance of 103 ml/min and VD0.48 L/kg, which approximates the total body free water space. This was followed by rapid reaccumulation of methylmalonic acid over 24 hours to the predialysis concentration in the plasma. Following combined liver/kidney transplantation, the plasma methylmalonic acid was reduced to 3% of pre-dialysis levels (6965± 1638 (SD) µmol/Land 234± 100(SD) µmol/L)but remained >850 × higher than the upper limit of normal (0.27 ± 0.08 (SD) µmol/L). Despite substantial post-operative metabolic improvement, the patient developed significant neurologic complications including acute worsening of vision in the setting of pre-existing bilateral optic neuropathy, generalized seizures, and a transient, focal leukoencephalopathy. Plasma methylmalonic acid was stable throughout the post-operative course. The biochemical parameters exhibited by this patient further define the whole body metabolism of methylmalonic acid in the setting of dialysis and subsequent combined liver/kidney transplant.

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“…A few report of cardiac disease in MMA patients have been found in the literature. To date, seven patients (2 Caucasian, 1 Moroccan and 4 Japanese) with MMA and cardiomyopathy have been reported, and 4 of them died because of cardiomyopathy [6,7]. And one Arab patient with MMA was reported to have been treated for heart failure due to suspected carnitine deficiency [18].…”

Section: Discussionmentioning

confidence: 99%

Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia

Kim

et al. 2017

J Genet Med

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Cardiac Disease in Methylmalonic Acidemia

Cited by 40 publications

References 10 publications

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia

A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut⁰ methylmalonic acidemia

Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia

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Cardiac Disease in Methylmalonic Acidemia

Cited by 40 publications

References 10 publications

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia

A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut0 methylmalonic acidemia

Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia

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A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut⁰ methylmalonic acidemia