Inborn errors of metabolism (IEM) are a group of rare genetic disorders that affect the metabolic pathways due to enzyme deficiencies. These conditions often present in the neonatal period and can lead to severe health complications if not diagnosed and treated early.
Diagnosis typically involves a combination of clinical evaluation, family history, and advanced biochemical testing. Newborn screening programs play a crucial role in early detection. Tests like tandem mass spectrometry can identify numerous metabolic disorders from a single blood spot.
Symptoms can vary widely depending on the specific disorder but often include poor feeding, vomiting, lethargy, hypoglycemia, and seizures. In severe cases, metabolic crises can lead to coma or death if untreated.
Treatment strategies depend on the specific disorder but generally include dietary modifications, enzyme replacement therapy, and supportive care. For instance, in PKU, a diet low in phenylalanine is essential to prevent intellectual disability. Prompt treatment is crucial to avoid long-term complications.
The prognosis varies significantly based on the specific condition and the timeliness of diagnosis and treatment. Early detection through newborn screening and appropriate management can significantly improve outcomes, allowing many affected neonates to lead relatively normal lives.
Most inborn errors of metabolism are inherited in an autosomal recessive pattern, meaning both parents must be carriers of the defective gene. Genetic counseling is recommended for families with a history of these disorders to understand the risks and options for future pregnancies.
Newborn screening is essential for the early detection of inborn errors of metabolism. Early diagnosis allows for immediate intervention, which can prevent severe complications and improve the quality of life. Many countries have mandatory newborn screening programs that test for a range of metabolic disorders.
