title: Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.
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.
authors.affiliation: Section of Metabolism, Children's Hospital of Philadelphia, 34th & Civic Center Boulevard, Philadelphia, PA 19104-4399, USA. FICICIOGLU@.Email.CHOP.Edu
authors.forename: C
authors.initials: C
authors.lastname: Ficicioglu
authors.forename: M R K
authors.initials: MR
authors.lastname: Chrisant
authors.forename: I
authors.initials: I
authors.lastname: Payan
authors.forename: D H
authors.initials: DH
authors.lastname: Chace
mesh_terms: D000806:Angiotensin-Converting Enzyme Inhibitors / Q000627:therapeutic use; D002216:Captopril / Q000627:therapeutic use; D002262:Carboxy-Lyases / Q000172:deficiency*; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000178:diet therapy; D002316:Cardiotonic Agents / Q000627:therapeutic use; D002331:Carnitine / Q000097:blood / Q000627:therapeutic use; D004077:Digoxin / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis*; D009123:Muscle Hypotonia / Q000175:diagnosis* / Q000188:drug therapy; D015997:Neonatal Screening
chemical_list: D000806:Angiotensin-Converting Enzyme Inhibitors; D002316:Cardiotonic Agents; D004077:Digoxin; D002216:Captopril; D002262:Carboxy-Lyases; C021532:malonyl-CoA decarboxylase; D002331:Carnitine