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hypotonia with lactic acidemia and hyperammonemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotonia with lactic acidemia and hyperammonemia

MONDO:0012718

Also known as:COXPD5MRPS22 combined oxidative phosphorylation deficiencycombined oxidative phosphorylation defect type 5

Overview

This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.

GeneticsAutosomal recessive · MRPS22 (chr 3)

OnsetANTENATAL

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Generalized hypotonia, Hyperammonemia, Lactic acidosis, and Fetal skin edema and others. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	5	Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial ATP synthase complex, Increased circulating lactate concentration

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MRPS22 encodes mitochondrial ribosomal protein S22 (360 aa). Highest expression in Adrenal Gland (36.1 TPM) and Cells Cultured fibroblasts (35.5 TPM).

Hypotonia with lactic acidemia and hyperammonemia is associated with mutations in the MRPS22 gene on chromosome 3.

MRPS22 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MRPS22 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypotonia with lactic acidemia and hyperammonemia.

2 publications have been identified in PubMed for hypotonia with lactic acidemia and hyperammonemia. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Keser M (2026). [PMID: 40352449](https://pubmed.ncbi.nlm.nih.gov/40352449/). *Mol Syndromol*. [Basic Science / Preclinical]
Antolínez-Fernández Á (2024). [PMID: 38855161](https://pubmed.ncbi.nlm.nih.gov/38855161/). *Front Cell Dev Biol*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611719

Orphanet

European rare disease database

Orphanet:137908

GARD

Genetic and Rare Diseases Info Center

GARD:16950

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hypotonia with lactic acidemia and hyperammonemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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