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cystinúria
Č. záznamu d003555 Dátum 06.06.2025 Typ M - MESH Tematický termín cystinúria Pozri tiež (Novšie záhlavie) moč
MDT C12.050.351.968.419.815.885.250C12.200.777.419.815.885.250C12.950.419.815.885.250C16.320.831.885.250 Poznámka An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1. predmetové heslo
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