Overview
There are hundreds of inherited metabolic disorders, such as phenylketonuria and urea cycle disorders. Many are found in newborns. Early diagnosis and treatment can prevent serious complications.
Symptoms
- Poor feeding and vomiting in a newborn
- Drowsiness, floppiness or seizures
- Poor growth and developmental delay
- Unusual body or urine odour
- Enlarged liver
- Episodes of illness triggered by infection or fasting
Causes and risk factors
They are caused by gene changes, usually inherited from both parents. They are more common when parents are related by blood.
Diagnosis
Diagnosis uses newborn screening, blood and urine tests and genetic testing.
Treatment
Treatment depends on the condition and may include special diets, supplements, medicines and enzyme replacement. Lifelong specialist follow-up is usually needed.
When to see a doctor
Seek urgent care if a newborn is feeding poorly, vomiting, unusually sleepy or having fits. Discuss genetic counselling if a metabolic disorder runs in your family.
This information is for general education and does not replace advice from a qualified doctor. For a medical emergency, call +92-51-8446666 or go to the nearest emergency department.
