Inborn errors of sterol metabolism, unspecified, is a rare genetic disorder caused by mutations in genes involved in the metabolism of sterols, which are waxy, fat-like molecules found in the cell membrane. These mutations can cause a variety of metabolic abnormalities, including impaired absorption of cholesterol and other sterols, reduced production of certain sterols, and increased production of others.
Diagnosis of this disorder is based on a combination of clinical symptoms, laboratory tests, and genetic testing. Symptoms may include failure to thrive, poor muscle tone, and developmental delays. Blood tests may reveal elevated levels of certain sterols and reduced levels of others. Genetic testing can confirm the presence of a mutation in the relevant genes.
Differential diagnosis of this disorder may include other inborn errors of metabolism, such as lysosomal storage disorders, or other genetic disorders such as Down syndrome or cystic fibrosis.
Treatment of this disorder may include dietary changes, supplementation with certain sterols, and enzyme replacement therapy. Additional treatments may include physical and occupational therapy to help manage the symptoms.
The prognosis for this disorder is generally good, as long as the disorder is diagnosed and treated early. Early diagnosis and treatment can help reduce the risk of long-term complications, such as developmental delays, and can improve the overall quality of life.