title: Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia.
abstract: Making a diagnosis of transient non-ketotic hyperglycinaemia (tNKH) can be difficult. We report an infant who presented in the neonatal period with symptoms of NKH. Metabolic studies performed on day 2 of life showed raised cerebrospinal fluid (CSF) and plasma glycine, and a CSF:plasma glycine ratio consistent with NKH; however, a liver biopsy performed on day 5 revealed normal liver glycine cleavage system activity. Subsequently, the child's clinical condition improved in the absence of any therapeutic medication. Clinical assessment and developmental follow-up at 5 months, 1 year, and 2 years were age-appropriate. Guidance for the investigation and management of future suspected cases of tNKH is discussed.
authors.affiliation: Department of Clinical Biochemistry, the John Radcliffe Hospital, Oxford, UK. tim.lang@belfasttrust.hscni.net
authors.forename: T F
authors.initials: TF
authors.lastname: Lang
authors.forename: J R
authors.initials: JR
authors.lastname: Parr
authors.forename: E E
authors.initials: EE
authors.lastname: Matthews
authors.forename: R G F
authors.initials: RG
authors.lastname: Gray
authors.forename: J R
authors.initials: JR
authors.lastname: Bonham
authors.forename: J D S
authors.initials: JD
authors.lastname: Kay
mesh_terms: D000596:Amino Acids / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D005998:Glycine / Q000097:blood / Q000134:cerebrospinal fluid / Q000378:metabolism*; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis* / Q000378:metabolism; D007231:Infant, Newborn; D008099:Liver / Q000378:metabolism; D013997:Time Factors
chemical_list: D000596:Amino Acids; D005998:Glycine