Assessment of growth and development of children with inborn errors of metabolism in Assiut Governorate

Inborn errors of metabolism (IEM) are diseases resulting in deficient activity of an individual enzyme, structural protein in an intermediate metabolic pathway, present clinically in a wide variety of ways a ranging from non-specific chronic issues such as childhood delay in attaining development milestones, to acute decompensation.

The prevalence of all of inborn errors of metabolism globally is 50.9/100000 live birth, In Egypt the prevalence among clinically suspected children is 7.8%.

A study conducted in Minia Governorate (Egypt) on children less than 18 years included 67 children showed that 65.7% of children were under height. Also a study conducted in upper Egypt on 113 PKU patients showed that global developmental delay 54.9% was the most frequent presentations of PKU children. Parents of children with IEM face many challenges; as the financial burden and perceived restrictions in all aspects of life, discrimination by society in general, and the main challenge is dietary restrictions.

Rationale:

Despite being rare in Egypt, IEM are regarded as a national priority because of the substantial health burden they place on the growth and development of the affected children, which can range from delayed achievement of developmental milestones to acute decompensation and death.

However, there is lack of longitudinal studies in Egypt that focus on how IEM affect physical development and growth, as well as the difficulties parents encounter while caring for their children and following up with them. To our knowledge, no local studies have been conducted in this field before.

Inclusion Criteria:

• Under five years old children with confirmed diagnosis of IEM.
• Attending the study settings.

Exclusion Criteria:

• Patients diagnosed since birth with dysmorphic features.
• Patients diagnosed since birth with congenital anomalies.
• Patients with other neurological deficits (e.g. cerebral palsy, convulsions, birth anoxia…..)

Under five years old children with confirmed diagnosis of IEM who are attending the study settings