Malonic aciduria

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

Cardiomyopathy

A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.


Total: 9

                       


(per page)
PMID (PMCID)
25233985
 MIXED_SAMPLE Infant, Newborn
Malonic aciduria: long-term follow-up of new patients detected by newborn screening.
Baertling F, Mayatepek E, Thimm E, Schlune A, Kovacevic A, Distelmaier F, Salomons GS, Meissner T.
Eur J Pediatr. 2014;173(12):1719-22.
Patients with a suspected or confirmed diagnosis of malonic aciduria should undergo thorough diagnostic procedures and be regularly screened for complications such as cardiomyopathy even when they are asymptomatic in order to ensure early therapy of treatable complications.
25233985
 MIXED_SAMPLE Infant, Newborn
Malonic aciduria: long-term follow-up of new patients detected by newborn screening.
Baertling F, Mayatepek E, Thimm E, Schlune A, Kovacevic A, Distelmaier F, Salomons GS, Meissner T.
Eur J Pediatr. 2014;173(12):1719-22.
Early treatment can lead to the rapid improvement of cardiomyopathy in the course of malonic aciduria.
20549361
 FEMALE Infant, Newborn
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
Footitt EJ, Stafford J, Dixon M, Burch M, Jakobs C, Salomons GS, Cleary MA.
J Inherit Metab Dis. 2010;33 Suppl 3:S253-6.
Malonyl coenzyme A (CoA) decarboxylase (EC 4.1.1.9, MCD) deficiency, or malonic aciduria, is a rare inborn error of metabolism characterised by a variable phenotype of developmental delay, seizures, cardiomyopathy and acidosis.
20549361
 FEMALE Infant, Newborn
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
Footitt EJ, Stafford J, Dixon M, Burch M, Jakobs C, Salomons GS, Cleary MA.
J Inherit Metab Dis. 2010;33 Suppl 3:S253-6.
This case of malonic aciduria with cardiomyopathy demonstrates improvement in cardiac function attributable to LCT-restricted/MCT-supplemented diet.
20549361
 FEMALE Infant, Newborn
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
Footitt EJ, Stafford J, Dixon M, Burch M, Jakobs C, Salomons GS, Cleary MA.
J Inherit Metab Dis. 2010;33 Suppl 3:S253-6.
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
16078122
 MALE Infant, Newborn
Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.
Ficicioglu C, Chrisant MR, Payan I, Chace DH.
Pediatr Cardiol. 2005;26(6):881-3.
Malonyl-CoA decarboxylase deficiency is an inborn error of metabolism that may cause hypotonia and a fatal cardiomyopathy in infancy.
16078122
 MALE Infant, Newborn
Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.
Ficicioglu C, Chrisant MR, Payan I, Chace DH.
Pediatr Cardiol. 2005;26(6):881-3.
We report a case of malonyl-CoA decarboxylase deficiency in a 5-month-old boy who presented with cardiomyopathy and hypotonia.
9869665
 MALE Infant
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase.
Gao J, Waber L, Bennett MJ, Gibson KM, Cohen JC.
J Lipid Res. 1999;40(1):178-82.
The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, seizures, hypotonia, cardiomyopathy, vomiting, hypoglycemia, metabolic acidosis, and malonic aciduria.
9177981
 MALE Infant
A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.
Yano S, Sweetman L, Thorburn DR, Mofidi S, Williams JC.
Eur J Pediatr. 1997;156(5):382-3.
Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy.