lysinuric protein intolerance
- lysinuric protein intolerance
- a rare autosomal recessive disorder of metabolism caused by mutation in the SLC7A7 gene (locus: 14q11.2), which encodes a subunit of a cationic amino acid transport, resulting in a defect in transport of lysine, ornithine, and arginine in the kidneys and intestine. It is characterized by episodic hyperammonemia, aversion to protein-rich food, vomiting, and mild diarrhea, which may result in failure to thrive, wasting, and hypotonia, and is treated by citrulline supplementation.
Medical dictionary.
2011.
Look at other dictionaries:
Lysinuric protein intolerance — Classification and external resources Lysine ICD 10 E … Wikipedia
Intolerance — is an antonym to tolerance . The term may refer to one of the following.;Medical/biological conditionsIn medical/biological context the term is commonly used synonymously with sensitivity , e.g., salycylate sensitivity , cold sensitivity ,… … Wikipedia
Intolerance aux proteines avec lysinurie — Intolérance aux protéines avec lysinurie Intolérance aux protéines avec lysinurie Autre nom Aminocidurie cationique Référence MIM … Wikipédia en Français
Intolérance Aux Protéines Avec Lysinurie — Autre nom Aminocidurie cationique Référence MIM … Wikipédia en Français
Intolérance aux protéines avec lysinurie — Référence MIM 222700 Transmission Récessive Chromosome 14q11.2 Gène SLC7A7 Empreinte parentale Non … Wikipédia en Français
intolerance — Abnormal metabolism, excretion, or other disposition of a given substance; term often used to indicate impaired utilization or disposal of dietary constituents. hereditary fructose i. [MIM*229600] a metabolic error due to deficiency … Medical dictionary
SLC7A7 — Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7, also known as SLC7A7, is a human gene.cite web | title = Entrez Gene: SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7| url =… … Wikipedia
Cystinuria — Classification and external resources Chemical structure of cystine formed from L cysteine (under biological conditions) ICD 10 E … Wikipedia
Congenital disorder of glycosylation — Congenital disorders of glycosylation Classification and external resources ICD 10 E77.8 ICD 9 271.8 … Wikipedia
metabolic disease — ▪ pathology Introduction any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… … Universalium
