Author/Editor		Sedmak, M; Logar-Car, G
Title		Pomanjkanje dolgoverižne 3-hidroksiacil-koencim A dehidrogenaze - primer dveletne deklice
Translated title		Long chain 3-hydroxyacyl-co A dehydrogenase deficiency - case of a two years old girl
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 64, št. 2
Publication year		1995
Volume		str. 85-7
Language		slo
Abstract		Background. Disorders of fatty acid oxidation are described recently, from the mid-1970s. The clinical picture, diagnostic algorhytm and therapeutic possibilities are described. The two years old girl with long chain 3-hydroxy acyl-coenzyme A dehydrogenase deficiency is presented. It is an autosomal recessive inherited disease. Conclusion: Because the disease is autosomal recessive inherited the genetic counselling is necessary.
Summary		Izhodišča. Presnove bolezni z motnjo beta oksidacije maščobnih kislin so opisane šele v zadnjih dveh desetletjih. V prispevku opisujemo klinično sliko, diagnostični postopek in možnosti za zdravljenje otrok s presnovnimi motnjami maščobnih kislin. Naša dvoletna bolnica ima pomanjkanje 3-hidroksi acilkoencim A dehidrogenaze, ki je avtosomno recesivno dedno obolenje. Zaključek. Ker je bolezen avtosomno recesivno dedna, je potrebno genetsko svetovanje.
Descriptors		LIPID METABOLISM, INBORN ERRORS ACYL COENZYME A FATTY ACID DESATURASES CHILD