GFER syndrome

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GFER syndrome
Autosomal recessive - en.svg
Synonyms Growth failure, mitochondrial; Mitochondrial myopathy and sideroblastic anemia
Pronounce N/A
Specialty Medical genetics
Symptoms Growth failure, muscle weakness, anemia, sideroblastic anemia
Complications N/A
Onset Infancy
Duration Lifelong
Types N/A
Causes Mutations in the GFER gene
Risks Family history of the condition
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis Other forms of mitochondrial disease, anemia
Prevention N/A
Treatment Supportive care, symptomatic treatment
Medication N/A
Prognosis Variable, depending on severity
Frequency Rare
Deaths N/A


Rare genetic disorder


GFER syndrome is a rare genetic disorder characterized by a combination of neurological, muscular, and metabolic abnormalities. It is caused by mutations in the GFER gene, which plays a crucial role in mitochondrial function.

Genetics[edit | edit source]

GFER syndrome is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The GFER gene is responsible for encoding the growth factor, augmenter of liver regeneration (ALR), which is involved in the maintenance of mitochondrial function.

Pathophysiology[edit | edit source]

The GFER gene encodes a protein that is essential for the proper functioning of mitochondria, the energy-producing organelles in cells. Mutations in this gene lead to impaired mitochondrial function, which affects various systems in the body, particularly the nervous system and muscles. This results in the clinical manifestations observed in individuals with GFER syndrome.

Clinical Features[edit | edit source]

Individuals with GFER syndrome may present with a variety of symptoms, including:

Diagnosis[edit | edit source]

The diagnosis of GFER syndrome is based on clinical evaluation, family history, and genetic testing. Genetic testing can confirm the presence of mutations in the GFER gene. Additional tests may include MRI of the brain, muscle biopsy, and metabolic studies to assess mitochondrial function.

Management[edit | edit source]

Currently, there is no cure for GFER syndrome, and treatment is primarily supportive. Management strategies may include:

Prognosis[edit | edit source]

The prognosis for individuals with GFER syndrome varies depending on the severity of the symptoms and the degree of mitochondrial dysfunction. Early diagnosis and supportive care can improve quality of life and outcomes for affected individuals.

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD