Fumarase deficiency in dichorionic diamniotic twins.

Area of Science:

• Biochemistry
• Genetics
• Metabolic Disorders

Background:

• Fumarase deficiency is a rare autosomal recessive metabolic disorder affecting the Krebs cycle.
• It presents with severe neurological symptoms, including microcephaly, dystonia, developmental delay, and seizures, often leading to early lethality.
• Heterozygous carriers have an elevated risk for hereditary leiomyomatosis and renal cell carcinoma.

Observation:

• A non-consanguineous family with a dichorionic diamniotic twin pregnancy was studied.
• Twin boys were diagnosed with fumarase deficiency, confirmed biochemically, enzymatically, and molecularly.
• The clinical presentation included hepatic involvement.

Findings:

• A novel mutation in the fumarate hydratase gene was identified in the affected twins.
• This mutation was confirmed to be the cause of fumarase deficiency in this family.
• The study provides detailed biochemical, enzymatic, and molecular evidence of the deficiency.

Implications:

• This discovery expands the known spectrum of fumarase deficiency mutations.
• It highlights the importance of genetic testing for early diagnosis and management of fumarase deficiency.
• Understanding novel mutations aids in genetic counseling and potential therapeutic strategies for affected families.