An 8 days old neonate presents with hypoglycemia (Glucose - 17 mg%) and jaundice is diagnosed to have metabolic disorder. Most likely diagnosis:
B i.e. GalactosemiaRef: Nelson, Textbook of Pediatrics, 20th edition, page 726/Manuai of Neonatal Care, ClohertyExplanation:GalactosemiaDue to deficiency of galactose-1-phosphate uridyltransferase (GALT).Newborn develop symptoms after ingestion of lactose (glucose-galactose disaccharide) through a standard formula or breast milk.Clinical featuresVomiting, diarrhea, feeding difficulties,Hypoglycemia.Jaundice, hepatosplenomegaly, liver dysfunction,Renal tubulopathy.Lethargy, irritability, seizures,Oil drop cataract.Increased risk of Escherichia coli neonatal sepsis.Galactose is elevated in plasma, and galactose-1-phosphate is elevated in red blood cells.Newborn screening programs screen for galactosemia either by measuring GALT enzyme activity or galactose levels.Substituting a soy-based formula for breastfeeding, later, a galactose-restricted diet.Also NotelEMs presenting with hypoglycemia:Organic acidurias,Defects of fatty acid oxidation.Defects of gluconeogenesis (glycogen storage disease type I or fructose-1, 6-bisphosphatase deficiency).Nonketotic hypoglycemia is the hallmark of defects in fatty acid oxidation while hypoglycemia associated with metabolic acidosis and ketones suggests an organic acidemia or defect of gluconeo- genesis.DefectClinical featuresLab featuresTreatmentFatty acid oxidation defect* Hypoketotic hypoglycemia* Lactic acidosis* Cardiomyopathy* HepatopathyAbnormal acylcarnitine profileGlucose infusion, carnitine (50- 100 mg/kg/day), and avoid fastingGlycogen storage disease* Typically presents at 3 to 6 months of age* Poor growth* Hypoglycemia* HepatomegalyLactic acidosis, hypertriglyceridemia and hyperuricemiaAvoidance of fasting Frequent or continuous feeding
Hypothyroidism
Galactosemia
Glycogen storage disease
Fatty acid oxidation defect
Inborn Errors of Metabolism