Practice Exam-Newborn Screening

Newborn Screening

Pdf Summary

This document contains practice exam questions related to Newborn Screening (NBS), specifically focusing on metabolic disorders detected through NBS. <br /><br />Question ID 25237 describes a case involving a 4-day-old female newborn exhibiting symptoms such as tachypnea, lethargy, ketoacidosis, and hyperammonemia. The correct answer for this case, based on the symptoms and NBS results, is an elevation of C3 acylcarnitine, which indicates a disorder like Methylmalonic or Propionic Acidemia (MMA/PA). These conditions are associated with the symptoms mentioned.<br /><br />The document also provides explanations for incorrect options: biotinidase deficiency, which is generally asymptomatic in neonates; galactose-1-phosphate uridylyltransferase deficiency (GALT) related to Galactosemia, presenting with different symptoms like poor feeding and jaundice; elevated phenylalanine levels indicate Phenylketonuria (PKU), which is often asymptomatic in newborns; and elevations of C6, C8, C10 acylcarnitines seen in Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD).<br /><br />Question ID 25236 involves a 4-day-old male newborn whose mother had HELLP syndrome during pregnancy. The correct answer involves an elevation of C16-OH, which corresponds to Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD), a condition linked to HELLP syndrome. <br /><br />Incorrect options include elevations of different acylcarnitines corresponding to other metabolic disorders such as MMA/PA, Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD), MCAD, and Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD).<br /><br />These questions and answers are intended for practitioners to improve understanding and interpretation of NBS results related to metabolic conditions in newborns.

Keywords

Newborn Screening

metabolic disorders

tachypnea

ketoacidosis

hyperammonemia

Methylmalonic Acidemia

Propionic Acidemia

acylcarnitines

LCHAD

HELLP syndrome