Living with Ketoacidosis due to monocarboxylate transporter-1 deficiency
A rare metabolic condition with repeated episodes of too much acid in the blood (ketoacidosis) during fasting or infections in early childhood.
Understanding Ketoacidosis due to monocarboxylate transporter-1 deficiency
Episodes are triggered by fasting or infections in the first years of life. They often start with poor feeding and vomiting and come with dehydration. In severe cases, people can have lowered alertness and weak breathing effort. Low blood sugar is seen only rarely. Children with changes in both copies of the gene tend to be younger at onset, have more severe episodes, and may have mild to moderate developmental delay.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Feeding difficulties
- Vomiting and dehydration during episodes
- Episodes of ketoacidosis
- Developmental delay
- Intellectual disability
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 SLC16A1 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 SLC16A1 gene cause this condition. GARD lists autosomal dominant and autosomal recessive inheritance.
Also known as: monocarboxylate transporter 1 deficiency
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 Ketoacidosis due to monocarboxylate transporter-1 deficiency.
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