Living with Maple syrup urine disease
An inherited condition in which the body cannot process certain protein building blocks, often noticed as sweet-smelling urine in babies.
Understanding Maple syrup urine disease
It is named for the sweet smell of an affected baby's urine. The classic type is the most common and severe and shows up soon after birth. Milder variant forms appear later in infancy or childhood. GARD notes that untreated forms can cause seizures and delayed development.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Delayed development
- Intellectual disability
- Low muscle tone (hypotonia)
- Unsteady movement (ataxia)
- Breathing problems
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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 Maple Syrup Urine Disease Family Support Group 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. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: bckd - branched-chain 2-ketoacid dehydrogenase deficiency; bckd deficiency; bckdh deficiency; branched chain ketoacid dehydrogenase deficiency; branched chain ketoaciduria; branched-chain 2-ketoacid dehydrogenase deficiency
Patient organizations
- Maple Syrup Urine Disease Family Support GroupMaple syrup urine disease · United States
- flokMaple syrup urine disease · United States
- Save Babies Through Screening Foundation, IncMaple syrup urine disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Maple syrup urine disease.
Explore research for Maple syrup urine disease
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