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portada Hypertryptophanemia
Type
Physical Book
Language
English
Format
Paperback
Dimensions
0 x 0 cm
ISBN13
9786131628917

Hypertryptophanemia

New Book Imported to Netherlands
Delivery: 02 Oct - 06 Oct Shipping: 14 to 15 business days.
€ 142,34
Import costs and 9% BTW included in the price ✅
€ 142,34

Synopsis "Hypertryptophanemia"

High Quality Content by WIKIPEDIA articles! Hypertryptophanemia, also called familial hypertryptophanemia, is a rare autosomal recessive metabolic disorder that results in a massive buildup of the amino acid tryptophan in the blood, with associated symptoms and tryptophanuria. Elevated levels of tryptophan are also seen in Hartnup disease, a disorder of amino acid transport. However, the increase of tryptophan in that disorder is negligible when compared to that of hypertryptophanemia. A number of abnormalities and symptoms have been observed with hypertryptophanemia. Musculoskeletal effects include: joint contractures of the elbows and interphalangeal joints of the fingers and thumbs, pes planus, an ulnar drift affecting the fingers of both hands, joint pain and laxity, and adduction of the thumbs. Behavioral, developmental and other anomalies often include: hypersexuality, perceptual hypersensitivity, emotional lability, hyperaggressive behavior; hypertelorism, optical strabismus and myopia.

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