الفهرس 
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Abstract
Inborn errors of metabolism are a phenotypically and genetically heterogeneous group of disorders caused by many defects in the metabolic pathway, leading to malfunctioning metabolism and/or accumulation of toxic intermediate metabolites. More than 500 IEMs have been recognized, can present clinically in a wide variety of ways, ranging from non-specific chronic issues like delayed developmental milestones, to acute decompensation in the neonatal period.
The aim of the work of the current study was to explore frequency of IEM among children who attend the Metabolic Outpatient Clinic at AUCH. In this study we recruited 80 children with IEM. Data about age, sex, birth order, area of residence, age at onset, presenting complaints and family history of the same disease were all collected from caregivers and the hospital records. Weight, height and BMI were measured and their standard deviations were calculated. The following laboratory tests had been done CBC, liver function, renal function tests, MRI, MRS, ammonia, lactate, pyruvate, uric acid, ABG, anion gab, EMS including amino acid, organic acids and TMS.
In the present study males were 57.5% and female were 42.5%. The mean age of the studied children 3.05 ± 3.32 years. Most of the studied children with a history of died sibling, similar sibling condition, similar family condition, a maternal history of repeated abortion, or children parent’s had positive consanguinity.
Forty-eight children (60%) presented with neurological symptom, 52.1% presented with acute encephalopathy and 48% had chronic encephalopathy signs and symptoms. 45% of the studied children had seizures (metabolic epilepsy) and 25% had global developmental delay.
According to anthropometric measurements of the studied children 21.3% of children had stunting (<-2 - -3SD), 15.0% had severely stunting (<-3SD). According to weight 17.5% of children had moderate underweight (<-2 - -3SD), 15.0% severely underweight <-3SD. 18.8% of children had severely wasted(<-3SD). The average BMI was (15.40 ± 3.50 kg/m2). The head circumference ranges from (34.0–56.0). 15.0% of children had microcephaly (<-3SD).
The occurrence of IEM among the studied children were as the following 26.3% had MSUD, 23.8% had GA type 1, 16.3% had MMA, and 10% had IVA, 2.5% of the studied children had FAOD and only one children of HMG-CoA lyase deficiency (1.3%).
Children with neurological symptoms had significantly higher family history, abnormal MRI findings and the elevation of plasma level of glurtyl Carnitine (C5DC /C60H) competed to children with non-neurological symptoms.
Children with developmental delay had significantly abnormal findings in MRI and the elevation plasma of glurtyl Carnitine (C5DC /C60H) compared to children with normal development.