Omani doctors discover rare baby genetic disorder

Muscat: Omani geneticists and a research team from the Genetic and Developmental Medicine Clinic at Sultan Qaboos University Hospital and the Royal Hospital, have detected a rare genetic disorder that affects newborns and causes severe weight loss, weak development and poor growth associated with vomiting and diarrhea. The newly-discovered disease has symptoms similar to those of the acute Cow’s milk protein intolerance (CMPI). The study combining detailed clinical evaluation and precise analysis of the genetic sequencing of the newly-detected disease, was published in the renowned Clinical Genetics Journal. Dr Khalid bin Said al Thuhli, Clinical Genetics Consultant at Sultan Qaboos University Hospital, said that the disease, despite being rare, is so serious and can cause the death of infants in their first months if the diagnosis and treatment were delayed. The majority of infected newborns have developed symptoms of severe diarrhea or persistent vomiting since the early days of their lives associated with slimness, weight loss and poor growth.