Publications by authors named "Louis Domenach"
Front Genet
September 2024
Article Synopsis
- Holocarboxylase synthase (HCS) deficiency is a rare metabolic disorder that often shows severe symptoms in newborns, but this report discusses late-onset cases in two siblings.
- The younger sister displayed symptoms at 11 years, which improved with treatment, and genetic testing identified a new mutation related to her condition.
- The older brother was diagnosed at 23 without prior metabolic crises, highlighting the disorder's complexity and the need for metabolic evaluations in older individuals experiencing unexplained metabolic acidosis.
