Living with Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
An extremely rare metabolic condition in which a certain sulfur compound is found in the urine, reported with intellectual disability and behavior differences.
Understanding Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
The urine has extra beta-mercaptolactate-cysteine disulfide, which leads to a positive test result. Intellectual disability, a lens that is out of place from birth, and behavior differences have been reported, but a direct link is still to be shown. GARD notes there have been no new descriptions in the medical literature since 1981.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Seizures
- Low muscle tone (hypotonia)
- Crossed eyes (strabismus)
- Short height
- Very flexible joints
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says changes in a person's genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: 3-mercaptopyruvate sulfurtransferase deficiency; ampola syndrome; beta-mercaptolactate cysteine disulfiduria; disulfiduria, mixed; mcdu; mercaptolactate-cysteine disulfiduria
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 Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria.
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