SNP Shot: Genomic Insights

Holocarboxylase synthetase deficiency is a genetic condition where the body struggles to utilize biotin, a vital vitamin, properly. It's a type of multiple carboxylase deficiency, a category of disorders marked by reduced function of biotin-dependent enzymes.

Symptoms of holocarboxylase synthetase deficiency usually manifest in early infancy, though the specific age can differ. Common signs in affected babies include feeding difficulties, breathing issues, a skin rash, hair loss (alopecia), and extreme tiredness (lethargy). Prompt treatment with biotin supplements, continued throughout life, can often prevent many of these complications. Without treatment, the condition can result in developmental delays, seizures, and coma, potentially becoming life-threatening.

Inheritance:

The inheritance pattern is autosomal recessive, indicating that both copies of the relevant gene in each cell must possess mutations for the condition to develop. Individuals with one copy of the mutated gene (carriers) usually do not exhibit symptoms but can pass the gene to their children.