RESUMEN
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.
Asunto(s)
Cardiomiopatías/dietoterapia , Cardiomiopatías/genética , Análisis Mutacional de ADN , Grasas de la Dieta/administración & dosificación , Fórmulas Infantiles , Errores Innatos del Metabolismo/dietoterapia , Errores Innatos del Metabolismo/genética , Tamizaje Neonatal , Enfermedades Raras , Triglicéridos/administración & dosificación , Alelos , Carboxiliasas/deficiencia , Carboxiliasas/genética , Cardiomiopatías/enzimología , Carnitina/administración & dosificación , Aberraciones Cromosómicas , Deleción Cromosómica , Codón de Terminación/genética , Ecocardiografía Doppler en Color , Femenino , Mutación del Sistema de Lectura/genética , Genes Recesivos , Homocigoto , Humanos , Lactante , Fórmulas Infantiles/química , Recién Nacido , No Compactación Aislada del Miocardio Ventricular/dietoterapia , No Compactación Aislada del Miocardio Ventricular/enzimología , No Compactación Aislada del Miocardio Ventricular/genética , Malonil Coenzima A , Errores Innatos del Metabolismo/enzimología , Ácido Metilmalónico , FenotipoRESUMEN
Ornithine transcarbamylase (OTC) deficiency is a urea cycle defect with varying frequency and severity of episodes of hyperammonemia. We report three patients with OTC deficiency with recurrent pancreatitis. The pathogenesis of acute pancreatitis in this patient population requires further elucidation. Pancreatitis significantly affected dietary/metabolic management and increased frequency of hospitalizations.
