Living with Methylmalonic aciduria and homocystinuria
An inherited condition in which the body can't properly process certain amino acids, fats, and cholesterol, usually showing up in infancy.
Understanding Methylmalonic aciduria and homocystinuria
The body cannot correctly process certain amino acids, fatty acids, and cholesterol. The most common form is cblC type, in about 80 percent of people. Signs usually appear in infancy but can begin at any age. Babies may grow slowly, have trouble feeding, and look pale. Eye and nervous system problems are common, and some people develop megaloblastic anemia.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth and feeding difficulties
- Low muscle tone and seizures
- Developmental delay and intellectual disability
- Small head (microcephaly)
- Eye problems (retinopathy)
- Megaloblastic anemia
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 blood and bone marrow specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
HCU Network America may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: HCU Network America
- 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 HCU Network America 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. Different forms have different genetic causes. GARD lists both autosomal recessive and X-linked inheritance.
Also known as: combined defect in adenosylcobalamin and methylcobalamin synthesis; methylmalonic acidemia and homocystinemia; methylmalonic acidemia with homocystinuria; methylmalonic aciduria with homocystinuria
Patient organizations
- HCU Network AmericaMethylmalonic aciduria and homocystinuria · United States
- Organic Acidemia AssociationMethylmalonic aciduria and homocystinuria · United States
You are more than your diagnosis
Perspectives from people navigating life with Methylmalonic aciduria and homocystinuria.
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