Living with Methylmalonate semialdehyde dehydrogenase deficiency
A rare inherited metabolic condition with developmental delay and high methylmalonic acid, varying a lot between people.
Understanding Methylmalonate semialdehyde dehydrogenase deficiency
It varies widely. It typically causes mild to severe developmental delay and ongoing high levels of methylmalonic acid in the urine. Other findings that have been reported include a small head, mild facial differences, low muscle tone, liver failure, and brain MRI differences. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Low muscle tone (hypotonia)
- Dystonia (muscle tightening)
- Delayed brain myelin development
- High forehead and high palate
- Sparse hair
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 genetic specialists.
- 3Consider genetic testing
Changes in ALDH6A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 the ALDH6A1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: developmental delay due to aldh6a1 deficiency; developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency; developmental delay due to mmsdh deficiency; mmsdh (methylmalonate semialdehyde dehydrogenase) deficiency; mmsdh deficiency; mmsdhd
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Methylmalonate semialdehyde dehydrogenase deficiency.
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