Natural history of nonketotic hyperglycinemia in 65 patients

Title

Natural history of nonketotic hyperglycinemia in 65 patients

Creator

Hoover-Fong JE; Shah S; Van Hove JL; Applegarth D; Toone J; Hamosh A

Publisher

Neurology

Date

2004

Subject

Child; Female; Humans; infant; Male; Pregnancy; Questionnaires; Disease Progression; Respiration; Survival Analysis; Sex Factors; Registries; adolescent; Preschool; infant; Newborn; AIM; IM; retrospective studies; Age of Onset; Health Surveys; Artificial; Seizures/et [Etiology]; Anticonvulsants/tu [Therapeutic Use]; Apnea/et [Etiology]; Apnea/th [Therapy]; Corpus Callosum/ab [Abnormalities]; Glycine/bl [Blood]; Glycine/cf [Cerebrospinal Fluid]; Hydrocephalus/ep [Epidemiology]; Hydrocephalus/et [Etiology]; Hyperglycinemia; Juvenile/dt [Drug Therapy]; Juvenile/ep [Epidemiology]; Juvenile/et [Etiology]; Myoclonic Epilepsy; Nonketotic/co [Complications]; Nonketotic/ep [Epidemiology]; Nonketotic/me [Metabolism]; Nonketotic/mo [Mortality]; Nystagmus; Pathologic/ep [Epidemiology]; Pathologic/et [Etiology]; Pregnancy Complications/ep [Epidemiology]; Psychomotor Disorders/ep [Epidemiology]; Psychomotor Disorders/et [Etiology]; Seizures/dt [Drug Therapy]; Seizures/ep [Epidemiology]

Description

BACKGROUND: Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder caused by a defect in the glycine cleavage system. NKH is classically associated with neonatal apnea, lethargy, hypotonia, and seizures, followed by severe psychomotor retardation in those who survive. METHODS: To determine the natural history of NKH, the authors mailed a 44-question survey to 170 households in the International NKH Family Network. RESULTS: Data for 65 patients (36 boys, 29 girls) were collected from 58 families. One-third of the subjects died; 8 girls died during the neonatal period, and 14 patients died thereafter (2 girls, 12 boys). Median age of death for boys was 2.6 years vs or =3 years, 10 were able to walk and say/sign words; all were boys. In six families with more than one affected child, disease course and mortality were similar within each family. CONCLUSIONS: This study reveals a striking and unexpected gender difference in mortality and developmental progress. Of the two-thirds of nonketotic hyperglycinemia patients surviving the newborn period, up to 20% (mostly boys) may learn to walk and communicate by saying or signing words.
2004

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

1847-1853

Issue

10

Volume

63

Citation

Hoover-Fong JE; Shah S; Van Hove JL; Applegarth D; Toone J; Hamosh A, “Natural history of nonketotic hyperglycinemia in 65 patients,” Pediatric Palliative Care Library, accessed October 24, 2021, https://pedpalascnetlibrary.omeka.net/items/show/12687.

Social Bookmarking