Author/Editor		Žerjav-Tanšek, M; Repič-Lampret, B; Bratanič, N; Kržišnik, C; Battelino, T
Title		Selektivni biokemični screening za genetske motnje presnove
Translated title		Selective biochemical screening for genetic metabolic disorders
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 7, št. Suppl 1
Publication year		2000
Volume		str. 136-41
Language		slo
Abstract		Despite extensive new knowledge, there is considerable evidence that many inherited metabolic disorders remain undiagnosed or are misdiagnosed. One of the reasons is a low incidence of metabolic diseases and many physicians do not consider acute situations until more common conditions have been ruled out. Additionally, clinical circumstances can be present with fluctuating multisystemic manifestations. The article presents the clinical and biochemical indications and analysis for the quantitative determination of amino acids and organic acids. The method is available now in the University Children's Hospital in Ljubljana.
Summary		Čeprav vemo o presnovnih procesih v človeškem organizmu vedno več, pa presnovne bolezni pogosto ostajajo klinično neprepoznane. Delno je vzrok za to nizka incidenca teh bolezni, delno pa zelo raznolike klinične slike, ki so posledica vpletenosti več organskih sistemov, saj biokemijska motnja lahko vpliva na številne celice oz. organe. Članek predstavlja nekatere najpogostejše klinične in biokemijske slike, ob katerih pomislimo na diagnozo presnovne motnje, in poudari pomen laboratorijske značilnosti novo uvedene metode kvantitativne analize aminokislin v serumu in organskih kislin v urinu, ki jo izvajamo na Kliničnem oddelku za endokrinologijo, diabetes in bolezni presnove Pediatrične klinike v Ljubljani.
Descriptors		METABOLISM, INBORN ERRORS AMINO ACIDS CHILD