الفهرس 
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Abstract
Background; Inborn errors of metabolism (IEM) are a highly heterogeneousgroup of geneticdisorders and represent a relevant cause ofmorbidity and mortality in pediatric population, Aim and objectives; To detect the frequency of IEM among neonates with suspected IEM, and to diagnose IEM as early as possible in order to minimize morbidity and mortality in sick neonates, Subjects and methods; This was a prospective analytical observational study conducted to 50 neonates admitted to Neonatal Intensive Care Unit (NICU) at Minia university Hospital for children with sepsis like symptoms (lethargy, hypoactivity, poor suckling, and poor crying, convulsions, persistent metabolic acidosis, persistent vomiting, history of previous sibling deaths of unidentified cause or clinical deterioration) in a previously healthy neonate from January 2021 to January 2022, Results; 20 (40%) cases had a history of siblings’ death and 3 (6%) cases had history of siblings’ death (diagnosed with IEM). The studied neonates started to develop symptoms at an age ranged from 1to 12 days with a mean of 5.91± 4.03 days,. the majority of neonates were delivered full term (82%)the age of studied neonates was ranged from 3 to 25 days with mean ± SD was 13.90± 6.41 days and median of 14.5 days. The gestational age ranged from 32 to 39 weeks with mean ± SD was 38.2± 5.26 weeks with 18% of gestational age less than 37 weeks. The mean head circumference was 34.6± 6.41. The majority of cases of patients were males (80%) and 10 (20%) were females with male to female ratio of 4.0: 1. The mean weight recorded in our cases was 2.67± 0.72 Kg with range 1.26- 3.67 Kg. 21 (42%) had positive consanguinity.neurological examination was normal in 17 (34%) patients and abnormal in 33 (66%) patients. The main presenting symptoms were vomiting in seven patients, convulsions presented in 11 patients, previous siblings death in 3 cases and persistent metabolic acidosis in nine casesTMS confirmed the diagnosis of IEM in 11 out of 18 patients diagnosed with IEM. Four (8%) patients had high C16- Carnitine, C6-Carnitine, C5-DC, C4-OH (C3-DC) and high C3 DC. The other seven cases who had IEM were diagnosed by using other clinical and laboratory investigation.Out of 50 neonates, eighteen patients (36%) were diagnosed as having IEM. Urea cycle defect was the commonest IEM diagnosed in 7 (14%) cases, followed by suspected organic academia in 4(8%) cases then MSUD in 2 (4%).Thirty-two patients (64%) had normal screening for IEM. Regarding presenting symptoms, vomiting and convulsion were significantly higher in cases with IEM compared to cases had not IEM (p=0.001 & 0.012 respectively). Abnormal neurological examination was significantly higher in cases with IEM compared to cases had not IEM (p=0.024). Organic acid in the urine was significantly higher in cases with IEM compared to cases had not IEM (p=0.030). Meanwhile there was no statistically significant differences between the two groups regarding age, gestational age, weight, gender, consanguinity, maturity, jaundice, hepatomegaly previous siblings’ death and persistent metabolic acidosis (p>0.05).serum ammonia was significantly higher in cases with IEM compared to normal cases (207.14± 117.96 Vs 40.43± 40.75, p=0.007). Organic acid in the urine was significantly higher in cases with IEM compared to normal cases (p=0.030). Meanwhile there was no statistically significant differences between the two groups regarding hemoglobin, WBCs, platelets, AST, ALT, creatinine, ABG with anion gap and serum lactate (p>0.05).Regarding the outcome, 39 (78%) neonates without IEM were discharged from NICU for follow up, 8 (16%) patients were died and 3 (6%) patients were discharged as requested by parents and lost follow up.