Propionic acidemia

On this page:

Description

Genetic changes

Inheritance

Diagnosis

Additional information

Other names

Glossary definitions

Reviewed July 2007

What is propionic acidemia?

Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of
proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition
that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of
organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic
and can cause serious health problems.
In most cases, the features of propionic acidemia become apparent within a few days after birth.
The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone
(hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious
medical problems, including heart abnormalities, seizures, coma, and possibly death.
Less commonly, the signs and symptoms of propionic acidemia appear during childhood and
may come and go over time. Some affected children experience intellectual disability or delayed
development. In children with this later-onset form of the condition, episodes of more serious
health problems can be triggered by prolonged periods without food (fasting), fever, or
infections.

How common is propionic acidemia?

Propionic acidemia affects about 1 in 100,000 people in the United States. The condition appears
to be more common in several populations worldwide, including the Inuit population of
Greenland, some Amish communities, and Saudi Arabians.

What genes are related to propionic acidemia?

Mutations in the PCCA and PCCB genes cause propionic acidemia.
The PCCA and PCCB genes provide instructions for making two parts (subunits) of an enzyme
called propionyl-CoA carboxylase. This enzyme plays a role in the normal breakdown of
proteins. Specifically, it helps process several amino acids, which are the building blocks of
proteins. Propionyl-CoA carboxylase also helps break down certain types of fat and cholesterol
in the body. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme and

prevent the normal breakdown of these molecules. As a result, a substance called propionyl-CoA
and other potentially harmful compounds can build up to toxic levels in the body. This buildup
damages the brain and nervous system, causing the serious health problems associated with
propionic acidemia.
Read more about the PCCA and PCCB genes.

How do people inherit propionic acidemia?

This condition is inherited in an autosomal recessive pattern, which means both copies of the
gene in each cell have mutations. The parents of an individual with an autosomal recessive
condition each carry one copy of the mutated gene, but they typically do not show signs and
symptoms of the condition.

Where can I find information about diagnosis or

management of propionic acidemia?
These resources address the diagnosis or management of propionic acidemia and may include
treatment providers.

Gene Review: Organic Acidemias

Gene Tests: PCCA-Related Propionic Acidemia

Gene Tests: PCCB-Related Propionic Acidemia

Gene Tests: Propionic Acidemia

Genetic Alliance

You might also find information on the diagnosis or management of propionic acidemia in
Educational resources and Patient support.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the
Handbook.

Where can I find additional information about propionic

acidemia?
You may find the following resources about propionic acidemia helpful. These materials are
written for the general public.

MedlinePlus - Health information (2 links)

Genetic and Rare Diseases Information Center

and rare diseases

Educational resources - Information pages (7 links)

Patient support - For patients and families (6 links)

- Information about genetic conditions

You may also be interested in these resources, which are designed for healthcare professionals
and researchers.

Gene Reviews

- Clinical summary

Gene Tests - DNA tests ordered by healthcare professionals (3 links)

ACTion Sheets - Newborn screening follow up (1 link)

ClinicalTrials.gov

PubMed

Online Books - Medical and science texts

- Linking patients to medical research

- Recent literature

Scriver's Online Metabolic and Molecular Bases of Inherited Disease (OMMBID):

Disorders of Propionate and Methylmalonate Metabolism

OMIM

- Genetic disorder catalog

What other names do people use for propionic acidemia?

hyperglycinemia with ketoacidosis and leukopenia

ketotic glycinemia

ketotic hyperglycinemia

PCC deficiency

PROP

propionicacidemia

propionyl-CoA carboxylase deficiency

For more information about naming genetic conditions, see the Genetics Home Reference
Condition Naming Guidelines and How are genetic conditions and genes named? in the
Handbook.

What if I still have specific questions about propionic

acidemia?
Ask the Genetic and Rare Diseases Information Center .

Where can I find general information about genetic

conditions?
The Handbook provides basic information about genetics in clear language.

What does it mean if a disorder seems to run in my family?

What are the different ways in which a genetic condition can be inherited?

If a genetic disorder runs in my family, what are the chances that my children will have
the condition?

Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

Genetics and health

Resources for Patients and Families

Resources for Health Professionals

What glossary definitions help with understanding propionic

acidemia?
acids ; aciduria ; amino acid ; autosomal ; autosomal recessive ; carboxylase ; cell ; cholesterol ;
CoA ; coma ; compound ; deficiency ; enzyme ; fasting ; fever ; gene ; hypotonia ; infection ;
lethargy ; lipid ; metabolism ; molecule ; muscle tone ; mutation ; nervous system ;
newborn screening ; organic acid ; population ; protein ; recessive ; screening ; seizure ; sign ;
subunit ; symptom ; tissue ; toxic
http://ghr.nlm.nih.gov/condition/propionic-acidemia