Living with Hypotonia with lactic acidemia and hyperammonemia
A rare mitochondrial condition seen before or at birth, with severe low muscle tone and high lactic acid and ammonia in the blood.
Understanding Hypotonia with lactic acidemia and hyperammonemia
It is marked by severe low muscle tone (hypotonia), a buildup of lactic acid in the blood (lactic acidemia), and high ammonia levels present from birth. Other features can include thickened heart muscle, swelling, a small head, and developmental delay. It may be seen during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe low muscle tone (hypotonia)
- Thickened heart muscle
- Swelling (edema)
- Small head (microcephaly)
- Global developmental delay
- Slow growth
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 MRPS22 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 United Mitochondrial Disease Foundation 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 the MRPS22 gene cause this condition. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation defect type 5; combined oxidative phosphorylation deficiency caused by mutation in mrps22; combined oxidative phosphorylation deficiency type 5; coxpd5; coxpd5 - combined oxidative phosphorylation defect 5; mrps22 combined oxidative phosphorylation deficiency
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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Perspectives from people navigating life with Hypotonia with lactic acidemia and hyperammonemia.
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