Outcome of Inherited Metabolic Disorders Presenting in the Neonatal Period
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ORIGINAL ARTICLE
Outcome of Inherited Metabolic Disorders Presenting in the Neonatal Period Umamaheswari Balakrishnan 1,2 Sebatini Ignatious 3
&
Ashok Chandrasekaran 1,2 & Prakash Amboiram 1,2 & Binu Ninan 1,2 &
Received: 18 April 2020 / Accepted: 28 September 2020 # Dr. K C Chaudhuri Foundation 2020
Abstract Objective To assess the outcome of infants who were diagnosed to have Inborn errors of metabolism (IEM) during neonatal period from a single center in South India. Methods This retrospective cohort study included consecutive neonates diagnosed to have IEM by biochemical testing or those detected using newborn screening (NBS) between November 2014 and July 2018. Disorders were categorized into intoxication and non-intoxication groups. Their presentation and outcome were described. Development at 12 mo was assessed objectively using DASII (Developmental assessment scale for Indian infants). Developmental quotient 35 ml/kg/h) compared to PD, continuous arteriovenous hemofiltration or continuous veno-venous hemodialysis [18]. Maple syrup urine disorder (MSUD) patients did better with neonatal dialysis compared to neonates with hyperammonemic disorders, as leucine clearance was faster compared to ammonia [19]. Carnitine also helps in removal of toxic metabolites in organic acidemia. In protein metabolic disorders, quantified amount of breast milk was initiated along with special formula as amino acid load in breast milk is low [20]. Mortality is variable. Neonatal mortality in present study was 23% which is comparable to previous studies [15, 21]. However, Spain reported a lower mortality of 10%, which could be due to the fact that many were detected by extended NBS [6]. In the present study, post neonatal mortality was 39%, these could have happened at home or in the hospital. An Italian study found a higher mortality in IEM compared to other illness in PICU [21]. Mortality among children with IEM admitted in PICU was reported to be 33–35% in Indian studies [22, 23]. Intoxication group had poorer survival rate compared to the non-intoxication group in present study. In
12 36
Citrullinemia type I (1)
Propionic acidemia (1)
13, 15 & 18
40
24 (both) 18
Pyridoxine dependent seizures# (3)
Multiple carboxylase deficiency (1)
Biotinidase deficiency (2) Fructose 1,6 diphosphatase deficiency (1)
Avoidance of fasting and alerting signs explained Vegetarian diet
Specialized indigenous diet
Extended NBS Biotin supplementation Presented on day 1 with hypoglycemia Fructose restricted diet and severe metabolic acidosis
HMG case 1: Metabolic acidosis on day 4; never had hypoglycemia HMG case 2: Hypoglycemic encephalopathy on day 12 Refractory seizures from day 2; Pyridoxine; Folinic acid Case 2 had communicating hydrocephalus; Case 3 had agenesis of corpus callosum & cortical malformations Antenatal periventricular cyst and High dose of biotin; postnatal lactic acidosis Vegetarian diet
Diagnosed by elevated AASA and Pipecolic acid in CSF, urine and plasma
12 & 34
HMG coA lyase deficiency (2)
Previous siblin
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