Nonketotic hyperglycinemia is an inborn error of glycine degradation pathway presenting during the first days, even hours, of the newborn and causing severe brain damage and often early death. Glycine acts as neurotransmitter and its increased concentration due to deficient degradation has brain damaging effect. NKH does not affect the intrauterine development but after normal delivery the disease presents during the first days of life - 66 percent of cases were symptomatic before 48 hrs of life in one large series. Patients develop lethargy and profound hypotonia and refuse to feed. Wandering eye movements and intermittent ophthalmoplegia are frequent. As the encephalopathy progresses to coma, the infants develop frequent sequential myoclonic jerks, apneic episodes and hiccups. Most patients do not survive this stage without assisted ventilation. Even with assisted ventilation about 30 percent of patients die during the neonatal period. The surviving infants usually regain spontaneous respiration by 3 weeks of age, but are severely brain damaged until death at the age of few months to several years. The diagnosis of NKH is based on increased concentration of glycine in urine, plasma and cerebrospinal fluid.

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Inter CAFFE

40 korisnika prisutno: 3 registrovanih, 1 skrivenih i 36 senkica. Ulogovani: cesko, galeksic, niko650 (01:08)

Bolje te vidim kad sklopim oči - Milan Višnjić
Uto 16.12.2014 8:31, micha@Umetnost
Jedan od cudnijih snova
Pon 15.12.2014 15:58, jeka1983@Sanovnik forum
Iz moje svaštare
Pon 15.12.2014 12:48, micha@Umetnost
Sanjam stalno bivseg momka. Da li to ista znaci?
Sre 10.12.2014 7:59, danielarmd@Sanovnik forum
Muzicki kutak - pjesme za prijatelje
Sre 10.12.2014 0:11, apprivoiser@Umetnost
Poezija - najlepsi stihovi
Sub 06.12.2014 10:32, Wind@Umetnost
Filigranska kapija od stihova - Dejan Milenković
Sub 06.12.2014 1:28, tragalac@Umetnost
Recepti, jela od mesa - rostiljijada
Sub 06.12.2014 0:45, niko650@Životni stil

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