Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report

Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report

Blog Article

Ornithine transcarbamylase deficiency (OTCD) is the most common disorder of the urea cycle and is caused by a mutation of the OTC halloween cookie card gene, located on chromosome X.Its prevalence is estimated at 1 in 80,000 to 56,500 births, but this X-chromosomal inheritance results in males being more affected than females.In neonates affected with this disorder, hyperammonemia after birth can lead to neurological and liver damage that can be fatal.We present a child with a prenatal diagnosis based on an older sibling with the same pathology, which led us to adopt an cashel g2 soft saddle intensive treatment since the delivery.

He was admitted in a neonatal unit and treatment with protein restriction, 10% glucose saline serum and glycerol phenylbutyrate was initiated.To date, after 3.5 years of follow up, growth and neurological development have been adequate, biochemical control has been appropriate except for a simple and mild decompensation during the course of a gastroenteritis.This case emphasises the importance of early diagnosis and treatment to avoid potential complications.