Cellular, animal and epidemiologic data are consistent with the view that cysteine is obesogenic. Targeted research linking in-vitro and in-vivo findings is needed to elucidate mechanisms involved.

No abstract

Increased levels of plasma cysteine predispose to obesity and metabolic disturbances. Our recent genetic analyses in spontaneously hypertensive rats (SHR) revealed mutated Folr1 (folate receptor 1) on chromosome 1 as a quantitative trait gene associated with reduced folate levels, hypercysteinemia and metabolic disturbances. The Folr1 gene is closely linked to the Folh1 (folate hydrolase 1) gene which codes for an enzyme involved in the hydrolysis of dietary polyglutamyl folates in the intestine. In the current study, we obtained evidence that Folh1 mRNA of the BN (Brown Norway) origin is weakly but significantly expressed in the small intestine. Next we analyzed the effects of the Folh1 alleles on folate and sulfur amino acid levels and consecutively on glucose and lipid metabolism using SHR-1 congenic sublines harboring either Folr1 BN and Folh1 SHR alleles or Folr1 SHR and Folh1 BN alleles. Both congenic sublines when compared to SHR controls, exhibited significantly reduced folate clearance and lower plasma cysteine and homocysteine levels which was associated with significantly decreased serum glucose and insulin concentrations and reduced adiposity. These results strongly suggest that, in addition to Folr1, the Folh1 gene also plays an important role in folate and sulfur amino acid levels and affects glucose and lipid metabolism in the rat.

ÖZETYenidoğan döneminde bazı metabolik hastalıklar hayatı tehdit eden ensefalopati tablosu olarak ortaya çıkar. Bu durum bazı metabolizma ara ürünlerinin beyinde birikerek toksik etkiler göstermesi ile ilişkilidir. Bebekler doğumda genelde asemptomatiktir. Yaşamın ilk günlerinde toksik metabolitlerin birikimi ile hastalarda yaygın hipotoni veya hipertoni, konvülzyonlar ve letarji gibi ensefalopati bulguları ortaya çıkar. Bu yazıda emmede azalma, yaygın hipotoni, miyoklonik nöbet ve hıçkırık nedeni ile gelen ve non-ketotik hiperglisinemi tanısı koyduğumuz bir infant sunulmuştur. Anahtar kelimeler: Hiperglisinemi, Ketotik Olmayan; Yenidoğanlar; Ensefalopatiler, Metabolik, Doğuştan ABSTRACTOn the newborn period some metabolic diseases may cause encephalopathy clinic which can threat the life. This is related with tke accumulation of metabolic intermediates ond the brain and their toxic effects.Babies are usually asymptomatic at birth. By the accumulation of toxic metabolytes patients have the encephalopathy symptoms such as hypotonia, hypertonia, convulsions and lethargy. In this article we report a patient who came to the clinic with decreased absorbtion, widely hypotonia, myoclonic seizures and hiccups and who has been diagnosed as non ketotic hyperglycinemia.