S-Adenosylhomocysteine hydrolase deficiency (SAHH deficiency) is a rare autosomal recessive disorder characterized by impaired methylation reactions due to mutations in the SAHH gene, leading to elevated levels of S-adenosylhomocysteine (SAH) and disruption of cellular methylation processes. This article explores the genetic basis, clinical manifestations, diagnostic challenges, and therapeutic approaches associated with SAHH deficiency.
SAHH deficiency arises from biallelic mutations in the SAHH gene, encoding the enzyme S-adenosylhomocysteine hydrolase, which catalyzes the hydrolysis of SAH to adenosine and homocysteine. Loss of SAHH activity results in the accumulation of SAH, a potent inhibitor of methyltransferase enzymes, impairing DNA, RNA, and protein methylation processes crucial for cellular function and gene regulation.
The clinical presentation of SAHH deficiency varies widely and may encompass multisystemic involvement, neurodevelopmental abnormalities, and hepatic dysfunction:
Diagnosing SAHH deficiency can be challenging due to its rarity, nonspecific clinical presentation, and overlapping features with other metabolic and neurodevelopmental disorders:
Management of SAHH deficiency focuses on supportive care and symptomatic treatment to alleviate clinical manifestations and optimize patient outcomes:
S-Adenosylhomocysteine hydrolase deficiency is a rare metabolic disorder characterized by impaired methylation reactions, neurodevelopmental abnormalities, and hepatic dysfunction. Early recognition, accurate diagnosis, and comprehensive management are essential for optimizing outcomes and improving the quality of life for individuals affected by SAHH deficiency.
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