Disease Directory Hypotonia with lactic acidemia and hyperammonemia
Metabolic

Hypotonia with lactic acidemia and hyperammonemia

Type

Disease

Gene

MRPS22

About Hypotonia with lactic acidemia and hyperammonemia

Hypotonia with lactic acidemia and hyperammonemia is a rare disease catalogued by Orphanet (ORPHA:137908). It is associated with the MRPS22 gene. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to Hypotonia with lactic acidemia and hyperammonemia trials.

Search ClinicalTrials.gov for "Hypotonia with lactic acidemia and hyperammonemia" or filter by Orphanet code ORPHA:137908 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

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Orphanet

European reference resource for rare diseases (ORPHA:137908)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Hypotonia with lactic acidemia and hyperammonemia trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Hypotonia with lactic acidemia and hyperammonemia. Updated daily.