Neonatal nonketotic hyperglycinemia: A case report

Abstract

Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder caused by a defect in the glycine cleavage enzyme. It leads to the accumulation of glycine in the body tissues, blood, and cerebrospinal fluid (CSF). Most NKH cases are diagnosed during the natal period of life and are fatal if not promptly diagnosed and managed. Here, we present a case of a two-day-old child who presented with hypotonia and lethargy. She had reduced tone in all four limbs and a loss of reflexes. The patient was shifted to the neonatal intensive care unit. Metabolic and other tests were sent. She was started on phenobarbital because of a seizure. Keeping a metabolic disease and an infectious etiology in mind, she was started on biotin, Vitamin B complex, ampicillin and gentamicin. Serum amino acid chromatography showed elevated glycine levels, and a diagnosis of NKH was made. The patient was managed symptomatically and discharged on the 14th day. The case emphasizes the significance of diagnosis and management of aminoacidopathies. Nearly all metabolic disorders have similar clinical presentations, and an early diagnosis can improve patient outcomes.

Cite this article as: Ozlen S, Dorum BA, Tutanc M. Neonatal nonketotic hyperglycinemia: A case report. Pediatr Acad Case Rep. 2024;3(1):5-8.

The parents’ of this patient consent was obtained for this study.

The authors declared no conflicts of interest with respect to authorship and/or publication of the article.

The authors received no financial support for the research and/or publication of this article.