galactosemia

Galactosemia is a rare genetic metabolic disorder caused by impaired metabolism of galactose, leading to various manifestations. The condition is associated with mutations in the GALM, GALK1, GALT, and GALE genes. The most severe form, classic galactosemia, can be life-threatening, while milder forms, such as galactokinase deficiency, primarily result in cataracts. Despite the identification of these genes, the specific inheritance pattern remains unestablished, and the prevalence of galactosemia is unknown. Clinical features have not been systematically documented, indicating a need for further research.

The limited documentation surrounding galactosemia can be attributed to its rarity, which affects fewer than 1 in 60,000 births, resulting in scarce systematic clinical studies. Additionally, the genetic basis of galactosemia has only recently been identified, and comprehensive clinical characterization is ongoing. This makes it challenging to gather extensive data on clinical features and outcomes.

There are currently two orphan drugs designated for galactosemia: 2-(4-oxo-3-((5-(trifluoromethyl)benzo[d]thiazol-2-yl)methyl)-3,4-dihydrothieno[3,4-d]pyridazin-1-yl)acetic acid and an adeno-associated virus 2/9 expressing the human GALT gene (AAV2/9-hGALT). Additionally, there are two active clinical trials focused on this condition. For more information, you can search for ongoing studies at ClinicalTrials.gov: https://clinicaltrials.gov/search?cond=galactosemia.