Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy

J Inherit Metab Dis. 2010 Dec:33 Suppl 3:S253-6. doi: 10.1007/s10545-010-9137-z. Epub 2010 Jun 15.

Abstract

Malonyl coenzyme A (CoA) decarboxylase (EC 4.1.1.9, MCD) deficiency, or malonic aciduria, is a rare inborn error of metabolism characterised by a variable phenotype of developmental delay, seizures, cardiomyopathy and acidosis. There is no consensus for dietary treatment in this condition. This case describes the effect of a long-chain triglyceride (LCT)-restricted/medium-chain triglyceride (MCT)-supplemented diet upon the progress of an affected child. A full-term Asian girl of birth weight 3590 g was screened for malonic aciduria after birth due to a positive family history. She had elevated urine malonic and methylmalonic acids and was presumably homozygous for a deleterious mutation in the MLYCD gene. Her echocardiography showed mild cardiomyopathy at 0.5 months of age, but heart function was good. She was treated with carnitine 100 mg/kg per day and continued a high-energy formula feed, as her growth was slow. At 3 months of age, echocardiography showed deteriorating cardiac function with a fractional shortening of 18%. She started an angiotensin-converting enzyme (ACE) inhibitor (Captopril). Over the next few months, her diet was altered to comprise 1.9% energy from LCT, 25% from MCT and the remainder carbohydrate. Cardiac function improved and was optimal at 23 months of age, with a fractional shortening of 28% and good systolic function. During a period of low MCT intake, her cardiac function was noted to deteriorate. This reversed and stabilised following reinstatement of the diet. This case of malonic aciduria with cardiomyopathy demonstrates improvement in cardiac function attributable to LCT-restricted/MCT-supplemented diet.

Publication types

  • Case Reports

MeSH terms

  • Angiotensin-Converting Enzyme Inhibitors / therapeutic use
  • Captopril
  • Carboxy-Lyases / deficiency*
  • Carboxy-Lyases / genetics
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / diet therapy*
  • Cardiomyopathies / drug therapy
  • Cardiomyopathies / enzymology
  • Cardiomyopathies / genetics
  • Carnitine / therapeutic use
  • Child, Preschool
  • Combined Modality Therapy
  • Dietary Supplements*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Infant Formula
  • Infant Nutritional Physiological Phenomena
  • Infant, Newborn
  • Malonyl Coenzyme A / genetics
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / diet therapy*
  • Metabolism, Inborn Errors / drug therapy
  • Metabolism, Inborn Errors / enzymology
  • Metabolism, Inborn Errors / genetics
  • Methylmalonic Acid
  • Mutation
  • Nutritional Status
  • Phenotype
  • Treatment Outcome
  • Triglycerides / administration & dosage*

Substances

  • Angiotensin-Converting Enzyme Inhibitors
  • Triglycerides
  • Malonyl Coenzyme A
  • Methylmalonic Acid
  • Captopril
  • Carboxy-Lyases
  • malonyl-CoA decarboxylase
  • Carnitine

Supplementary concepts

  • Malonic aciduria