GRACILE syndrome

GRACILE Syndrome

GRACILE Syndrome (pronounced /ɡræsɪl/), also known as Fellman Syndrome, is a rare genetic disorder that primarily affects newborn infants. The term "GRACILE" is an acronym derived from the major symptoms of the condition: Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death.

Etymology

The term "GRACILE" is derived from the first letters of the main symptoms of the syndrome. It was first described by the Finnish pediatrician and geneticist Leena Fellman in 1998, hence it is also known as Fellman Syndrome.

Symptoms

The symptoms of GRACILE Syndrome are primarily metabolic and include Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis, and Early Death. Infants with this condition often have a failure to thrive, liver dysfunction, and metabolic acidosis.

Causes

GRACILE Syndrome is caused by mutations in the BCS1L gene. This gene provides instructions for making a protein that is essential for normal mitochondrial function. Mutations in the BCS1L gene disrupt the function of mitochondria, leading to the signs and symptoms of GRACILE Syndrome.

Diagnosis

Diagnosis of GRACILE Syndrome is based on clinical symptoms, biochemical tests, and confirmed by genetic testing showing mutations in the BCS1L gene.

Treatment

There is currently no cure for GRACILE Syndrome. Treatment is supportive and focuses on managing the symptoms and complications of the condition.

Prognosis

The prognosis for individuals with GRACILE Syndrome is generally poor, with most infants not surviving past the neonatal period due to severe metabolic acidosis and liver dysfunction.

External links

Medical encyclopedia article on GRACILE syndrome
Wikipedia's article - GRACILE syndrome

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GRACILE syndrome