2016-11-23T03-02-18Z
Source: International Journal of Research in Medical Sciences
Abhishek Mansinh Patel, Khushnood M. Sheikh, Manisha B. Shastri.
Homocystinuria is a disorder of methionine metabolism. The term Homocystinuria refers as abnormally large amounts of homocystine are excreted in the urine. The condition was caused by impaired functioning of the cystionin B-synthetase (CBS) enzyme. Homocystinuria is an autosomal recessively inherited defect in the trans-sulfuration pathway (homocystinuria I) or methylation pathway (homocystinuria II and III). The most common form of homocystinuria is characterized by near sightedness, dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems. Homocystinuria has a current cumulative detection rate of 1 in 344,000. A high concentration of homocysteine makes fibrillin unstable. Fibrillin is responsible to form the structures which hold the lens of the eye in place. We report a case of 28 year old male with unilateral Subluxation of lens following trauma coincidentally diagnosed to have Homocystinuria and bilateral Subluxation of lens. On account of case we would like to emphasize homocystinuria should be considered as differential diagnosis in Subluxation of lens.
http://ift.tt/2gjM8ih
Τετάρτη 23 Νοεμβρίου 2016
Subluxation of lens alarms to homocystinuria
Εγγραφή σε:
Σχόλια ανάρτησης (Atom)
Δημοφιλείς αναρτήσεις
-
Background Hyperthyroidism is associated with increased thrombotic risk. As contact system activation through formation of neutrophil extrac...
-
UM-Chor1: establishment and characterization of the first validated clival chordoma cell line. J Neurosurg. 2017 Apr 21;:1-9 Authors:...
-
Publication date: Available online 10 May 2017 Source: Journal of Dairy Science Author(s): R.E. Vibart, M. Tavendale, D. Otter, B.H. Schw...
-
Competency-based psychiatric education for Indian medical undergraduates Vijayalakshmi Pernenkil Archives of Mental Health 2019 20(1):1-2 Be...
-
Related Articles Developmental control of macrophage function. Curr Opin Immunol. 2017 Dec 13;50:64-74 Authors: Bonnardel J, Guillia...
-
from #AlexandrosSfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/2tcPIjn via IFTTT
-
Abstract: Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal e...
-
Bloomberg Celgene Settles Whistle-Blower Fraud Suit for $280 Million Bloomberg Even after the FDA approved Thalomid for multiple myelo...
-
Related Articles Chinese version of the Constant-Murley questionnaire for shoulder pain and disability: a reliability and validation ...
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου