Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Footitt, E J ^a   Stafford, J ^a   Dixon, M ^a   Burch, M ^a   Jakobs, C ^b   Salomons, G S ^b   Cleary, M A ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CAPTOPRIL; CARBOXYLYASE; CARNITINE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; MALONYL COENZYME A; MALONYL-COA DECARBOXYLASE; METHYLMALONIC ACID; TRIACYLGLYCEROL; MALONYL COENZYME A DECARBOXYLASE;

ARTIFICIAL MILK; CARDIOMYOPATHIES; CASE REPORT; DEFICIENCY; DIET SUPPLEMENTATION; DIET THERAPY; ENZYMOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; INFANT; INFANT NUTRITION; METABOLISM, INBORN ERRORS; MULTIMODALITY CANCER THERAPY; MUTATION; NEWBORN; NUTRITIONAL STATUS; PHENOTYPE; PRESCHOOL CHILD; TREATMENT OUTCOME; ARTICLE; CARDIOMYOPATHY; INBORN ERROR OF METABOLISM;

ANGIOTENSIN-CONVERTING ENZYME INHIBITORS; CAPTOPRIL; CARBOXY-LYASES; CARDIOMYOPATHIES; CARNITINE; CHILD, PRESCHOOL; COMBINED MODALITY THERAPY; DIETARY SUPPLEMENTS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT FORMULA; INFANT NUTRITIONAL PHYSIOLOGICAL PHENOMENA; INFANT, NEWBORN; MALONYL COENZYME A; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MUTATION; NUTRITIONAL STATUS; PHENOTYPE; TREATMENT OUTCOME; TRIGLYCERIDES;

EID: 84897956204     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9137-z     Document Type: Article

References (5)

1. Bennett MJ, Harthcock PA, Boriak RL, Cohen JC (2001) Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with Malonyl-CoA Decarboxylase Deficiency. Mol Genet Metab 73(3):276-279
2. Ficicioglu C, Chrisant MR, Payan I, Chace DH (2005) Cardiomyopathy and hypotonia in a 5-month-old infant with Malonyl-CoA Decarboxylase Deficiency: potential for preclinical diagnosis with expanded newborn screening. Pediatr Cardiol 26(6):881-883
3. Malvagia S, Papi L, Morrone A et al. (2007) Fatal Malonyl Co-A Decarboxylase Deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16. Ann Hum Genet 71:705-712
4. Salomons GS, Jakobs C, Pope LL et al. (2007) Clinical, enzymatic and molecular characterisation of nine new patients with Malonylcoenzyme A decarboxylase deficiency. J Inherit Metab Dis 30 (1):23-28
5. Yano S, Sweetman L, Thorburn DR, Mofidi S, Williams JC (1997) A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy. Eur J Pediatr 156 (5):382-383