Diagnosis and early management of inborn errors of metabolism presenting around the time of birth.

UNLABELLED: Inherited metabolic diseases often present around the time of birth. They are responsible for some cases of hydrops fetalis and a number of dysmorphic syndromes. Patients with inborn errors may also present at (or shortly after) birth with seizures or severe hypotonia. Most affected babies, however, appear normal at birth and subsequently deteriorate, with hypoglycaemia, acidosis, neurological or cardiac problems, or liver disease. Treatment often involves measures to reduce catabolism and to remove toxic metabolites. It should not be delayed for a definitive diagnosis.

CONCLUSION: In the newborn period, inborn errors can easily be misdiagnosed as sepsis or birth asphyxia; prompt detection requires vigilance and the early measurement of biochemical markers, such as plasma ammonia.