Lathosterolosis

Lathosterolosis (pronounced: la-tho-ster-ol-o-sis) is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated plasma and tissue concentrations of lathosterol. The condition is caused by mutations in the SC5D gene, which encodes for the enzyme sterol-C5-desaturase.

Etymology

The term "Lathosterolosis" is derived from "lathosterol", the compound that accumulates in the body due to the disorder, and "-osis", a common suffix in medical terminology indicating a disease or abnormal condition.

Symptoms

The symptoms of Lathosterolosis can vary, but often include microcephaly (small head size), intellectual disability, growth retardation, and congenital heart defects. Other symptoms may include cleft palate, cryptorchidism (undescended testicles), and hypospadias (abnormal location of the urethral opening).

Diagnosis

Diagnosis of Lathosterolosis is typically made through genetic testing, which can identify mutations in the SC5D gene. Additionally, elevated levels of lathosterol in the blood or tissues can also suggest a diagnosis of Lathosterolosis.

Treatment

There is currently no cure for Lathosterolosis. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy for developmental delays, surgical correction of congenital anomalies, and regular monitoring for potential health complications.

Prognosis

The prognosis for individuals with Lathosterolosis varies depending on the severity of symptoms. Some individuals may have a normal lifespan with appropriate management, while others may experience significant health complications.

External links

Medical encyclopedia article on Lathosterolosis
Wikipedia's article - Lathosterolosis

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Lathosterolosis