Transient Non-Ketotic Hyperglycinemia in a Newborn | Zendy

Tarak Choudhury | Zendy; Soumi Kundu | Zendy; Gobinda Das | Zendy; Malay Kumar Dasgupta | Zendy

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Transient Non-Ketotic Hyperglycinemia in a Newborn

Author(s) -

Tarak Choudhury,

Soumi Kundu,

Gobinda Das,

Malay Kumar Dasgupta

Publication year - 2017

Publication title -

journal of nepal paediatric society

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.13

H-Index - 8

eISSN - 1990-7982

pISSN - 1990-7974

DOI - 10.3126/jnps.v36i3.16047

Subject(s) - hyperglycinemia , medicine , cerebrospinal fluid , glycine cleavage system , glycine , endocrinology , hypotonia , chemistry , biochemistry , amino acid

In encephalopathic infants, cerebrospinal fluid hyperglycinemia and elevated cerebrospinal fluid to plasma glycine ratio are considered pathognomonic of Non-ketotic hyperglycinemia (NKH). It is due to a defect of the glycine cleavage system and has poor prognosis. We present a case of transient NKH presented to us with hypotonia, recurrent apnea and seizure. Increased ratio of cerebrospinal fluid to plasma glycine concentrations of 0.16 was seen as a strong diagnostic indicator of Non-ketotic hyperglycinemia.J Nepal Paediatr Soc 2016;36(3):303-306

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