Malonyl coenzyme a decarboxylase deficiency: Early dietary restriction and time course of cardiomyopathy

Pediatrics

Volumn 130, Issue 2, 2012, Pages

  Prada, Carlos E ^a   Jefferies, John L ^a   Grenier, Michelle A ^a   Huth, Christina M ^a   Page, Kimberley I ^a   Spicer, Robert L ^a   Towbin, Jeffrey A ^a   Leslie, Nancy D ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Angiotensin converting enzyme; Left ventricular noncompaction; Malonic acid; Malonyl carnitine; Malonyl CoA decarboxylase deficiency; Medium chain triglycerides; Newborn screening

Indexed keywords

CARNITINE; ENALAPRIL; LONG CHAIN TRIACYLGLYCEROL; MALONYL COENZYME A DECARBOXYLASE; MEDIUM CHAIN TRIACYLGLYCEROL;

ACIDEMIA; ARTICLE; CASE REPORT; CHILD DEVELOPMENT; CHILD GROWTH; CONGESTIVE CARDIOMYOPATHY; DIET RESTRICTION; DIET SUPPLEMENTATION; ECHOCARDIOGRAPHY; FEMALE; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; INFANT; LOW FAT DIET; MALONYL COENZYME A DECARBOXYLASE DEFICIENCY; MLYCD GENE; NEWBORN SCREENING; PRIORITY JOURNAL; TREATMENT OUTCOME; VENTRICULAR NONCOMPACTION;

ALLELES; CARBOXY-LYASES; CARDIOMYOPATHIES; CARNITINE; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CODON, TERMINATOR; DIETARY FATS; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY, DOPPLER, COLOR; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INFANT; INFANT FORMULA; INFANT, NEWBORN; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; NEONATAL SCREENING; PHENOTYPE; RARE DISEASES; TRIGLYCERIDES;

EID: 84864515189     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2011-2927     Document Type: Article

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