Article

Different Findings in Neonate Carbamyl-Phosphate Synthetase I Deficiency Disease

2024-11-10

Abstract excerpt

<title>Abstract</title> <p>Background Carbamyl-Phosphate Synthetase I Deficiency Disease (CPS1) is a rare condition that is a disorder of the urea cycle. It often results in severe hyperammonaemia with poor prognosis due to inappropriate feeding. Case presentation: We report a case of a patient admitted with poor response and jaundice, with initial metabolic screening suggestive of hyperammonemia, refinement of...

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Literature Corpus work: 1302a1c6-8f81-5d10-a2a3-094929fac818
DOI: 10.21203/rs.3.rs-5233738/v1

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