1. Cardiomyopathy and Hypotonia in a 5-Month-Old Infant with Malonyl-CoA Decarboxylase Deficiency: Potential for Preclinical Diagnosis with Expanded Newborn Screening
- Author
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M. R. K. Chrisant, D.H. Chace, Irma Payan, and Can Ficicioglu
- Subjects
Male ,Digoxin ,medicine.medical_specialty ,Pediatrics ,Captopril ,Cardiotonic Agents ,Carboxy-Lyases ,Cardiomyopathy ,Angiotensin-Converting Enzyme Inhibitors ,Neonatal Screening ,Carnitine ,Internal medicine ,medicine ,Malonyl-CoA decarboxylase deficiency ,Screening programs ,Humans ,Newborn screening ,business.industry ,Infant, Newborn ,Infant ,medicine.disease ,Decarboxylase deficiency ,Hypotonia ,Malonylcarnitine ,Endocrinology ,Inborn error of metabolism ,Pediatrics, Perinatology and Child Health ,Muscle Hypotonia ,medicine.symptom ,Cardiomyopathies ,Cardiology and Cardiovascular Medicine ,business ,Metabolism, Inborn Errors - Abstract
Malonyl-CoA decarboxylase deficiency is an inborn error of metabolism that may cause hypotonia and a fatal cardiomyopathy in infancy. Newborn metabolic screening programs do not include this disorder, although there is a possibility that presymptomatic treatment may attenuate the development of cardiomyopathy. We report a case of malonyl-CoA decarboxylase deficiency in a 5-month-old boy who presented with cardiomyopathy and hypotonia. Retrospective analysis of the newborn screening test showed an elevation in the concentration of malonylcarnitine at age 3 days. Unfortunately, this perturbation was missed because the screening test did not routinely measure malonylcarnitine in the newborn blood. Our experience confirms the possibility of screening for malonyl-CoA decarboxylase deficiency with tandem mass spectrometry. This finding should enable studies to determine if presymptomatic treatment could change the outcome in this often fatal disorder.
- Published
- 2005
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