Evaluation of diagnostic accuracy of biomarkers of inborn errors of metabolism in sick neonates: A prospective observational study

Mathur, N. B.; Shankar, Kaushaki; Kapoor, Seema; Varughese, Bijo

doi:10.1016/j.cegh.2021.100707

Cited by 1 publication

(1 citation statement)

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“…TMS in dried blood sample along with urine GCMS are considered gold standard or reference test in expanded newborn screening for diagnosing various organic acidemias, fatty acid oxidation disorders, and amino acid disorders. 19 In our case, the urine GCMS report and clinical pictures are suggestive of 5-Oxoprolinuria of severe form, although assay of glutathione synthetase could not be done. Being an autosomal recessive condition, the parents are usually healthy carrier without any symptoms.…”

Section: Discussionmentioning

confidence: 60%

Early Myoclonic Infantile Encephalopathy in Neonate Caused by 5-Oxoprolinuria, a Rare Metabolic Entity: A Case Report

Kundu

Sen

Mallick

et al. 2023

Journal of Neonatology

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Neonatal encephalopathy is a common entity encountered by treating physicians in any neonatal intensive care unit. Though hypoxic ischaemic encephalopathy is the most frequent cause in developing countries, metabolic causes should also be looked for in refractory neonatal seizures with sibling death and parental consanguinity. Early myoclonic infantile encephalopathy, considered under the broad spectrum of infantile encephalopathy, is a rare syndrome in infants with onset within 3 months of age. It is characterized by myoclonic seizures, features of encephalopathy and caused by underlying metabolic diseases, nonketotic hyperglycinemia being the most common cause. On contrary its close mimicker, Ohtahara syndrome or early infantile epileptic encephalopathy is most likely associated with structural neurological lesions. We report a 12-day term Indian male neonate, born of second degree consanguinity with multiple sibling death history, presented with refractory myoclonic seizures in spite of uneventful birth history. Myoclonic seizures, refractory to intravenous phenobarbitone, phenytoin and infusion Midazolam, persisted after ruling out hypoglycemia, dyselectrolytemia, and neonatal sepsis. EEG showed typical burst suppression pattern pointing towards diagnosis of early myoclonic infantile encephalopathy. Further metabolic causes were looked for but tandem mass spectrometry for dried blood sample was normal. Lastly, urinary GCMS revealed 5-oxoprolinuria, an autosomal recessive condition, characterized by acidosis, jaundice, and severe hemolytic anemia among neonates, primarily due to glutathione synthetase enzyme deficiency. In severe form of 5-oxoprolinuria, neurological complications in form of seizures, ataxia have been documented in earlier studies; however, its association with myoclonic encephalopathy is yet to be reported in the literature and this report may be the first of its kind.

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Section: Discussionmentioning

confidence: 60%