Living with Multiple acyl-CoA dehydrogenase deficiency
An inherited condition (glutaric acidemia type II) in which the body cannot break down proteins and fats for energy, with episodes of weakness and vomiting.
Understanding Multiple acyl-CoA dehydrogenase deficiency
Partly processed proteins and fats build up and make the blood and tissues too acidic (metabolic acidosis). It usually appears in infancy or early childhood as a sudden metabolic crisis, with low blood sugar, weakness, poor feeding, less activity, and vomiting, which common illnesses or stress can trigger. In the most severe cases, babies are born with physical differences in the brain, liver, heart, kidneys, face, and genitals. Milder forms may begin later, and the first sign can be muscle weakness in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tiring easily with exercise
- Low muscle tone (hypotonia)
- Muscle aches
- Weakness in the upper arms and upper legs
- Episodes of vomiting and low blood sugar
- A sweaty-feet odor
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation, United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Organic Acidemia Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. GARD lists autosomal recessive and mitochondrial inheritance, which means a child inherits a changed copy of the gene from each parent.
Also known as: electron transfer flavoprotein deficiency; electron transfer flavoprotein ubiquinone oxidoreductase deficiency; ethylmalonic-adipicaciduria; ga 2; ga ii; glutaric acidemia type 2
Patient organizations
- Organic Acidemia AssociationMultiple acyl-CoA dehydrogenase deficiency · United States
- FOD (Fatty Oxidation Disorder) Family Support GroupMultiple acyl-CoA dehydrogenase deficiency · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple acyl-CoA dehydrogenase deficiency.
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