Malonyl-CoA decarboxylase deficiency
Malonyl-coenzyme A decarboxylase deficiency
Initial symptoms/signs may include:
- Poor feeding
- Lactic acidosis
- Contact the family and evaluate the infant for vomiting, poor feeding, lethargy, ketonuria.
- Provide emergency treatment/referral for evidence of hypoglycemia, acidosis, seizures.
- To confirm the diagnosis, work with the following service(s): see all Newborn Screening Programs services providers (3) in our database.
- For evaluation and ongoing collaborative management, consult the following service(s): Pediatric Medical Genetics, (801-213-3599); See also Services below.
- Educate the family regarding signs, symptoms, and the need for urgent care when the infant becomes ill.
- Support implementation and maintenance of a high carbohydrate, low fat diet with medium chain triglyceride supplements.
- Oral L-carnitine is indicated.
- Prompt treatment of infections/fever/gastroenteritis with IV fluids containing glucose and hospital admission.
- For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.
Malonic Aciduria (OMIM)
Extensive review of literature that provides technical information on genetic disorders; Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University.
Malonic Aciduria Fact Sheet (Iowa Dept. of Health) ( 20 KB)
Provides information for parents and professionals.
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
Malonic Aciduria (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.
Baby's First Test: Malonic Aciduria (HHS)
Information about early signs, follow-up testing, treatment, causes, accessing care, and expected outcomes. Provides links to support services; supported by the U.S. Department of Health and Human Services.
Organic Acid Oxidation Disorders - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by metabolic and genetic specialists, for families who have received an initial diagnosis of a newborn disorder; Screening, Technology and Research in Genetics.
Organic Acidemia Association (OAA)
A nonprofit organization that provides information, newsletters, calendars of events, connections with other parents, a listserv, a discussion board, and nutrition and recipe ideas.
National Newborn Screening and Global Resource Center (NNSGRC)
Provides information about each state's newborn screening programs; sponsored by the University of Texas Health Science Center at San Antonio, Department of Pediatrics.
ACT Sheet for Malonic Aciduria (Elevated C3-DC) (ACMG) ( 347 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.
Confirmatory Algorithm for Malonic Aciduria (Elevated C3-DC) (ACMG) ( 53 KB)
Resource for clinicians to help confirm diagnosis; American College of Medical Genetics.
See all Newborn Screening Programs services providers (3) in our database.
See all Pediatric Genetics services providers (5) in our database.
For other services related to this condition, browse our Services categories or search our database.
Footitt EJ, Stafford J, Dixon M, Burch M, Jakobs C, Salomons GS, Cleary MA.
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
J Inherit Metab Dis. 2010. PubMed abstract
Malonic aciduria, is a rare inborn error of metabolism characterised by a variable phenotype of developmental delay, seizures, cardiomyopathy and acidosis. This case of malonic aciduria with cardiomyopathy demonstrates improvement in cardiac function attributable to LCT-restricted/MCT-supplemented diet.
|Reviewing Author:||Nicola Longo, MD, PhD - 3/2011|
|Content Last Updated:||4/2011|
Wightman PJ, Santer R, Ribes A, Dougherty F, McGill N, Thorburn DR, FitzPatrick DR.
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.
Hum Mutat. 2003;22(4):288-300. PubMed abstract