Pitfalls in the diagnosis of glycine encephalopathy (non‐ketotic hyperglycinemia)

Korman, Stanley H.; Gutman, Alisa

doi:10.1111/j.1469-8749.2002.tb00275.x

Cited by 62 publications

(39 citation statements)

References 100 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[2][3][4] Individuals with atypical NKH have a milder clinical presentation, variable neurological outcome, and less elevated CSF glycine and CSF:plasma glycine ratios. [5][6][7] A transient form of NKH (tNKH), in which symptoms spontaneously remit without leaving neurological sequelae, has been described in five individuals with an initially raised CSF:plasma glycine ratio which subsequently normalized. 2,3,8 Ultimately, for tNKH to be proven, a deficiency of glycine cleavage system (GCS) activity must be shown in a sample taken by liver biopsy 5 or from lymphoblasts; 9 upon an improvement in clinical symptoms, normalized GCS activity should be shown.…”

mentioning

confidence: 99%

“…In clinical practice, management decisions regarding the provision of palliative supportive care for individuals with NKH symptoms are usually made following the measurement of plasma and CSF glycine levels. However, as CSF glycine levels may be elevated secondary to other causes, 6 it is important that the investigations listed in Table I are performed in order to confirm or exclude the diagnosis of NKH.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Practical difficulties in the diagnosis of transient non‐ketotic hyperglycinaemia

Lang

Parr

Matthews

et al. 2008

Develop Med Child Neuro

View full text Add to dashboard Cite

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.

show abstract

mentioning

confidence: 99%

mentioning

confidence: 99%

Practical difficulties in the diagnosis of transient non‐ketotic hyperglycinaemia

Lang

Parr

Matthews

et al. 2008

Develop Med Child Neuro

View full text Add to dashboard Cite

show abstract

“…There is an elevated presentation among the Arab-Israeli population, New Zealand Maori, and southern part of the Netherlands [11,14].…”

Section: Introductionmentioning

confidence: 99%

Musculoskeletal manifestations of neonatal nonketotic hyperglycinemia

Ramírez

Flynn²,

Casalduc

et al. 2012

Journal of Children's Orthopaedics

View full text Add to dashboard Cite

Purpose Neonatal nonketotic hyperglycinemia is an autosomal recessive inborn disorder of glycine metabolism in which large quantities of glycine accumulate in all body tissues. It is characterized by a progressive lethargy, hypotonia, myoclonic jerks, and early death secondary to respiratory problems. As a result of early diagnosis and treatment protocols, more patients survive the critical neonatal period with profound mental retardation, delayed developmental milestones, seizures, and spasticity. There are no reports about the orthopaedic manifestations of neonatal nonketotic hyperglycinemia. The purpose of this study is to evaluate the musculoskeletal findings of neonatal nonketotic hyperglycinemia. Methods This is a retrospective IRB-approved study of all patients in our Orthopaedic and Genetics Clinics with the diagnosis of neonatal nonketotic hyperglycinemia during a 10-year period. Demographic, clinical, and imaging data were analyzed. Results Twelve patients with neonatal nonketotic hyperglycinemia were evaluated, with a mean age of 7 years and 2 months (range: 5 months to 21 years). Seven were male and five were female. Eleven patients (92 %) have evidence of progressive early-onset neuromuscular scoliosis with a mean Cobb angle of 55°(range: 30-95°). Five children (42 %) presented evidence of progressive hip dislocation secondary to spasticity. All the patients have severe multiple joint contractures. Conclusion Neonatal nonketotic hyperglycinemia is a rare metabolic disorder presented in the past as a lethal condition. Recent advances in early diagnosis and neonatal care improve overall outcome. As pediatric orthopaedic surgeons, we need to establish treatment based on update information of the disease and probability to improve quality of life.

show abstract

“…2 NKH is caused by deficiency of the glycine cleavage system (GCS), leading to accumulation of glycine in the central nervous system. 3,4 Treatment therefore is directed toward reducing plasma glycine levels by conjugation with sodium benzoate and antagonizing the action of glycine at the N-methyl-D-aspartate receptor (NMDAR) by administration of NMDAR antagonists such as dextromethorphan 5 or ketamine. 6 -8 Although some improvement in alertness and seizure frequency may be achieved, the devastating neurological consequences of NKH are not prevented or reversed.…”

mentioning

confidence: 99%