Metabolic Disorders in Children

Most of the developmental delay, epilepsy and neuromuscular disorders are due to underlying genetic and metabolic disorders.

Metabolic disorders are due to defect in the pathways of proteins, fat and carbohydrate. They can present from birth to any age. Common presentations are not gaining weight, frequent vomiting, abnormal urine smell, encephalopathy and seizures.

These disorders need to identify early to prevent neurological morbidities.

Common disorders are phenylketonuria, organic acidemias, urea cycle disorders. These disorders can treat with special diet, restrictionS of diet, and drugs.

Genetic disorders are due to problems in chromosome structure, number, and arrangement. These disorders presented with dysmorphism, developmental delay. Common disorders with neurological issues are Down, Angelman, 4q deletion, etc. Some epilepsies have underlying gene defects like dravet, KCNQ, PCDH 19. Diagnosis done with karyotyping, FISH, micro array and NGS.