Get More Help in UtahMalonic Acidemia
Guidance for primary care clinicians receiving a positive newborn screen result
Description
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 potentially causing cardiomyopathy. Treatment involves carnitine supplementation, a low-fat diet supplemented with medium-chain triglycerides (oxidation is not inhibited by malonic acid), and avoidance of fasting. [Wightman: 2003]
Clinical Characteristics
- Hypotonia
- Cardiomyopathy
- Seizures
- Vomiting
- Poor feeding
- Diarrhea
- Lethargy
- Hypoglycemia
- Lactic acidosis
Primary Care Management
Next Steps After a Positive Screen
- Contact the family and evaluate the infant for vomiting, poor feeding, lethargy, and ketonuria.
- Provide emergency treatment/referral for evidence of hypoglycemia, acidosis, or seizures.
Confirming the Diagnosis
- To confirm the diagnosis, work with Newborn Screening Services (see UT providers [3]).
- Quantitative plasma acylcarnitine profile, urine organic acids (elevated malonic acid)
If the Diagnosis is Confirmed
- For evaluation and ongoing collaborative management, consult Medical Genetics (see UT providers [7]).
- Provide initial consultation and ongoing collaboration, particularly for dietary management. See Nutrition, Metabolic (see UT providers [11]).
- Refer the family to Genetic Testing and Counseling (see UT providers [9]).
- CBS enzyme replacement therapy is currently in the preclinical phase, but clinical trials may be available.
- 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.
- Promptly treat infections, fever, and gastroenteritis with IV fluids containing glucose and admit to hospital.
- For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.
Resources
Information & Support
After a Diagnosis or Problem is Identified
Families can face a big change when their baby tests positive for
a newborn condition. Find information about A New Diagnosis - You Are Not Alone;
Caring for Children with Special Health Care Needs; Assistance in Choosing
Providers; Partnering with Healthcare Providers; Top Ten Things to Do After a
Diagnosis.
For Professionals
Malonic Aciduria (OMIM)
Information about clinical features, diagnosis, management, and molecular and population genetics; Online Mendelian Inheritance
in Man, authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
For Parents and Patients
Malonic Aciduria (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources;
from the National Library of Medicine.
Baby's First Test: Malonic Acidemia (Genetic Alliance)
Information about early signs, follow-up testing, treatment, accessing care, and expected outcomes. Provides links to support
services.
Organic Acidemia Association (OAA)
A nonprofit organization that provides information, support, events, connections with other parents, a discussion board,
and nutrition and recipe ideas.
Tools
UT ACT Sheet for Malonic Acidemia (ACMG) (
116 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive, along with resources
for consultation and patient education/support; from the American College of Genetics and Genomics
Confirmatory Algorithm for Malonic Aciduria (Elevated C3-DC) (ACMG) ( 155 KB)
Resource for clinicians to help confirm diagnosis; American College of Medical Genetics.
Services for Patients & Families in Utah (UT)
| Service Categories | # of providers* in: | UT | NW | Other states (3) (show) | | NM | NV | RI |
|---|---|---|---|---|---|---|---|---|
| Genetic Testing and Counseling | 9 | 4 | 4 | 11 | 6 | |||
| Medical Genetics | 7 | 1 | 2 | 5 | 4 | |||
| Newborn Screening Services | 3 | 1 | 3 | 2 | 2 | |||
| Nutrition, Metabolic | 11 | 11 | 11 | 13 | 13 | |||
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.
Studies
Malonic Aciduria (ClinicalTrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.
Helpful Articles
PubMed search for malonic aciduria in children
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
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