Galloway Mowat syndrome

Galloway Mowat syndrome (GMS) is a rare genetic disorder characterized by early-onset nephrotic syndrome and distinct neurological abnormalities. The syndrome was first described by Galloway and Mowat in 1968.

Clinical Features

The clinical features of Galloway Mowat syndrome are highly variable. The most common features include early-onset nephrotic syndrome, which often progresses to end-stage renal disease, and neurological abnormalities, which can include microcephaly, developmental delay, intellectual disability, and seizures. Other features can include dwarfism, hiatus hernia, and ocular abnormalities.

Genetics

Galloway Mowat syndrome is caused by mutations in the KEOPS complex genes. The KEOPS complex is involved in the modification of transfer RNAs, a process that is essential for protein synthesis. Mutations in these genes disrupt the function of the KEOPS complex, leading to the symptoms of Galloway Mowat syndrome.

Diagnosis

The diagnosis of Galloway Mowat syndrome is based on the presence of early-onset nephrotic syndrome and neurological abnormalities. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Galloway Mowat syndrome. Treatment is supportive and focuses on managing the symptoms of the disease. This can include medications to manage seizures and other neurological symptoms, and dialysis or kidney transplantation for end-stage renal disease.

Prognosis

The prognosis for individuals with Galloway Mowat syndrome is poor. Most individuals with the syndrome do not survive past childhood, although some individuals have lived into adulthood.

See Also

• Nephrotic syndrome
• Genetic disorder
• KEOPS complex

NIH genetic and rare disease info

• NIH info on Galloway Mowat syndrome

Galloway Mowat syndrome is a rare disease.

edit 

WikiMD neurology

External links

• Comprehensive information from the National Institute of health.
  

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

Galloway Mowat syndrome Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.

Translate to: East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski