Home > Newborn Disorders > Malonic aciduria
Malonic aciduria
Names
Malonic aciduria
MA
Malonyl-CoA decarboxylase deficiency
Malonyl-coenzyme A decarboxylase deficiency
MLYCD
MCD
Overview
Insufficient malonyl-CoA decarboxylase results in the accumulation of malonic acid and its derivatives in the blood. Malonic acid inhibits fatty acid oxidation, resulting in hypoglycemia, and can cause cardomyopathy. Treatment involves carnitine supplementation, low-fat diet supplemented with medium chain triglycerides (whose oxidation is not inhibited by malonic acid), and avoidance of fasting. [Wightman: 2003]Prevalence
Rare - fewer than 20 cases have been reported. [Malonic aciduria (Genetics Home Reference)]Clinical Characteristics
With treatment, some of the sequelae may be prevented or ameliorated. 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. Developmental delays and hypotonia can be seen even with optimal treatment and without any episode of decompensation.Initial symptoms/signs may include:
- hypotonia
- cardiomyopathy
- seizures
- vomiting
- poor feeding
- diarrhea
- lethargy
- hypoglycemia
- 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
- 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): Utah Newborn Screening Program, (801-584-8256); See also Services below
- For evaluation and ongoing collaborative management, consult the following service(s): Medical Genetics, (801-231-3599); See also Services below
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 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
Specialty Care Collaboration
Initial consultation and ongoing collaboration, particularly for dietary management. Genetic counseling for the family.Resources
Information & Support
For Professionals
ACT Sheet for Malonic aciduria (ACMG)
(
347 KB)
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.
ACT Sheets and Confirmatory Algorithms (ACMG)
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.
Resources for malonic aciduria (NLM)
Comprehensive compilation of links to information, articles, research, case studies, genetics, and more; from the National
Library of Medicine and the Genetic Alliance.
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)
( 20 KB)
This site, sponsored by the Iowa Department of Health, provides information and fact sheets for parents and professionals.
For Parents and Patients
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, UT 84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening
Pediatric Medical Genetics
See all Pediatric Medical 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.
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.
Authors
| Reviewing Author: | Nicola Longo MD, PhD, 3/2011 |
| Compiled and edited by: | Alfred Romeo RN, PhD, 3/2007 |
| Content Last Updated: | 4/2011 |
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