Inherited metabolic disorders are present at birth and may be detected by routine screening. However, many individuals are diagnosed when symptoms appear.
Treatment of inherited metabolic disorders may lead to improvement in symptoms as well as prevent progression to irreversible loss of brain functioning.
Suspect an inherited metabolic disorder when the following signs and symptoms are noted in the patient:
- Poor appetite and failure to gain weight
- Abdominal pain, vomiting, jaundice
- Developmental delay
- Seizures or coma
- Abnormal smell of urine, breath, saliva or sweat