AGE-18 months DOB-24/4/2018 WT-8 KG
Family history- Both parents have genetic problem.
They had their 1st child who was born on 6/1/17. He lost his life only after six days on 13/1/2017.The child ammonia level had gone up significantly, baby was suffering from same problem which family came to know after death from blood testing.
Their 2nd child was born in 2018. She was admitted to nearby hospital after 1 month of delivery. Her ammonia level increased to such a level that the child went into coma. She was put on dialysis in this condition.
After a prolonged hospital stay she was discharged. The family has taken the child to many paediatricians and gone through lot of reports. Day by day she is not gaining weight she vomit out food sometimes not able to stand with support. The child is very active, she can listen, recognise faces, understand, but not able to speak.
Baby Hirwa Parmar is diagnosed with type 1 citrullinemia.