Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.
Malonyl coenzyme A (CoA) decarboxylase (MCD) deficiency is a rare autosomal recessive organic acidemia characterized by varying degrees of organ involvement and severity. MCD regulates fatty acid biosynthesis and converts malonyl-CoA to acetyl-CoA. Cardiomyopathy is 1 of the leading causes of morbidity and mortality in this disorder. It is unknown if diet alone prevents cardiomyopathy development based in published literature. We report a 10-month-old infant girl identified by newborn screening and confirmed MCD deficiency with a novel homozygous MLYCD mutation. She had normal echocardiogram measurements before transition to high medium-chain triglycerides and low long-chain triglycerides diet. Left ventricular noncompaction development was not prevented by dietary interventions. Further restriction of long-chain triglycerides and medium-chain triglycerides supplementation in combination with angiotensin-converting enzyme inhibitors helped to improve echocardiogram findings. Patient remained asymptomatic, with normal development and growth. Our case emphasizes the need for ongoing cardiac disease screening in patients with MCD deficiency and the benefits and limitations of current dietary interventions.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 3333 Burnet Ave, MLC 4006, Cincinnati, OH 45229, USA.
Carlos E
CE
Prada
John L
JL
Jefferies
Michelle A
MA
Grenier
Christina M
CM
Huth
Kimberley I
KI
Page
Robert L
RL
Spicer
Jeffrey A
JA
Towbin
Nancy D
ND
Leslie
D000483:Alleles; D002262:Carboxy-Lyases / Q000172:deficiency / Q000235:genetics; D009202:Cardiomyopathies / Q000178:diet therapy* / Q000201:enzymology / Q000235:genetics*; D002331:Carnitine / Q000008:administration & dosage; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D004041:Dietary Fats / Q000008:administration & dosage*; D018618:Echocardiography, Doppler, Color; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007223:Infant; D041943:Infant Formula / Q000737:chemistry; D007231:Infant, Newborn; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000178:diet therapy / Q000201:enzymology / Q000235:genetics; D008316:Malonyl Coenzyme A; D008661:Metabolism, Inborn Errors / Q000178:diet therapy* / Q000201:enzymology / Q000235:genetics*; D008764:Methylmalonic Acid; D015997:Neonatal Screening; D010641:Phenotype; D035583:Rare Diseases; D014280:Triglycerides / Q000008:administration & dosage*
D018388:Codon, Terminator; D004041:Dietary Fats; D014280:Triglycerides; D008316:Malonyl Coenzyme A; D008764:Methylmalonic Acid; D002262:Carboxy-Lyases; D002331:Carnitine