Author/Editor | Neubauer, David | |
Title | Vrojene napake presnove aminokislin in organskih kislin | |
Translated title | Inborn errors of metabolism | |
Type | članek | |
Source | Med Razgl | |
Vol. and No. | Letnik 37, št. Suppl 4 | |
Publication year | 1998 | |
Volume | str. 297-302 | |
Language | slo | |
Abstract | The author describes two major groups ot inborn errors of metabolism, namely aminoacidopathies and organic acidurias. Those forms, which have higher incidence and which present mainly with neurological symptoms and signs, an discussed in detail. Also, those forms are stated where clinical experience makes a diagnosis possible and where treatment and final prognosis are favourable. In all the described forms main clinical characteristics, diagnostic work-up, treatment possibilities and final outcome are discussed. | |
Summary | Avtor opisuje dve največji skupini vrojenih napak presnove-napake v presnovi aminokislin in napake v presnovi organskih kislin. Podrobneje opiše tiste oblike, ki so številčnejše in tiste, ki se kažejo pretežno z nevrološkimi simpto mi in znaki. Poudari tudi tiste oblike, pri katerih lahko odkrijemo motnjo s kliničnimi izkušnjami, jo ustrezno zdravimo in preprečimo posledice. Pri vsaki izmed vrst napak opiše tudi glavne klinične značilnosti, diagnostične postopke, predstavi možnosti zdravljenja in opiše končni izid. | |
Descriptors | AMINO ACID METABOLISM, INBORN ERRORS LIPID METABOLISM, INBORN ERRORS |