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Screening & Prevention >> Newborn Screening >> Organic Acidemias >> Malonic aciduria

Malonic aciduria

Disorder Category

an organic acid disorder

Screening

Finding

elevated C3-DC (acylcarnitine)

Tested By

tandem mass spectrometry (MS/MS); sensitivity=NA; specificity=NA

Names

Malonic aciduria

MA

Malonyl-CoA decarboxylase deficiency

Malonyl-coenzyme A decarboxylase deficiency

MLYCD

MCD

ICD-9

270.9, Disorder of amino-acid metabolism

Overview

Insufficient malonyl-CoA decarboxylase impairs the intramitochondrial break down of malonyl-CoA to acetyl-CoA resulting in accumulation of malonic acid and its derivatives in the blood. Malonyl-CoA inhibits fatty acid oxidation, resulting in hypoglycemia, cardomyopathy, and liver failure. Treatment involves carnitine supplementation, low-fat diet, and avoidance of fasting. Defect may be due to a mutation resulting in protein mis-targeting. [Wightman: 2003]

Prevalence

Rare - fewer than 20 cases have been reported. [Malonic aciduria, Genetics Home Reference]

Inheritance

autosomal recessive

Prenatal Testing

Enzyme analysis by amniocentesis or CVS.

Clinical Characteristics

With treatment, some of the sequelae may be prevented. Without treatment, episodes of hypoglycemia and metabolic acidosis may lead to delayed development, hypotonia, seizures, and cardiomyopathy. While symptoms may present within the first few weeks of life, symptoms are more likely to develop in older infants and children. Symptoms may be triggered by fasting and illness.

Initial symptoms/signs may include:
  • vomiting,
  • poor feeding,
  • diarrhea,
  • lethargy,
  • hypoglycemia, and
  • lactic acidosis.

Follow-up on positive screening test

Quantitative plasma acylcarnitine profile, urine organic acids (elevated malonic acid).

Primary care management

Upon notification of the + screen

If the diagnosis is confirmed

  • 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 fatty acid diet;
  • Oral L-carnitine is indicated;
  • For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.

Specialty Care Management

Initial consultation and ongoing collaboration, particularly for dietary management. Genetic counseling for the family.

Resources

Links

For Professionals

ACT Sheet for Malonic aciduria from ACMG (pdf 146kb)
Developed by the American College of Medical Genetics (ACMG), includes recommended responses to positive newborn screening test results, diagnostic evaluation, clinical expectations, and sources of additional information. See the ACMG ACT Sheets and Confirmatory Algorithms (link elsewhere on this page) for more info and sheets on other conditions.

ACMG ACT Sheets and Confirmatory Algorithms
The American College of Medical Genetics (ACMG) has developed ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results. This page contains a table with links to all of the ACT Sheets and related algorithms.

Malonic aciduria, OMIM
From the Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University, providing technical information for providers on genetic disorders, links to MEDLINE, and links to other scientific information and sites.

Malonic aciduria fact sheet, Iowa Dept. of Health
This site, sponsored by the Iowa Department of Health, provides information and fact sheets for parents and professionals.

For Parents

Malonic aciduria, Genetics Home Reference
Excellent, detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference site.

Organic Acidemia Association (OAA)
A non-profit organization that provides information for parents and providers; newsletters; event information; connections with other parents; a listserv; a discussion board; information about nutrition and recipes; translation of their web pages into five other languages; hosting of the Propionic Acidemia Research Network and other research funds; and links to other sites.

Services

Newborn Screening Programs

Utah Newborn Screening Program, more info...
44 Mario Capecchi Drive
Salt Lake City, UT84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening

Pediatric Genetics

Metabolic Clinic, more info...
100 Mario Capecchi Drive
Salt Lake City, UT84113
Phone: 801-585-2457
Fax: 585-7252
http://www.ped.med.utah.edu/divisions/divisions.htm

See all Pediatric Genetics services providers (3) in our database.

For other services related to this condition, browse our Services categories or search our database.

Helpful Articles

PubMed search for articles on malonic aciduria in the last 5 years.

Authors

Reviewing Author: Nicola Longo MD, PhD, 3/2007
Compiled and edited by: Alfred Romeo RN, PhD, 3/2007
Content Last Updated: 3/2008

Page Bibliography

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
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