Lowe syndrome: Case report of a patient with a novel mutation in the OCRL gene | Zendy

Grace Angeline Malarnangai Kularatnam | Zendy; Vindya Subasinghe | Zendy; Dilanthi Hewa Warawitage | Zendy; K. Jayasena | Zendy; Florian Recker | Zendy; Eresha Jasinge | Zendy; Samantha Waidyanatha | Zendy; Michael Ludwig | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Lowe syndrome: Case report of a patient with a novel mutation in the OCRL gene

Author(s) -

Grace Angeline Malarnangai Kularatnam,

Vindya Subasinghe,

Dilanthi Hewa Warawitage,

K. Jayasena,

Florian Recker,

Eresha Jasinge,

Samantha Waidyanatha,

Michael Ludwig

Publication year - 2017

Publication title -

sri lanka journal of child health

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.153

H-Index - 6

eISSN - 2386-110X

pISSN - 1391-5452

DOI - 10.4038/sljch.v46i3.8334

Subject(s) - medical journal , sri lanka , medicine , publishing , scopus , transparency (behavior) , open access publishing , library science , open access journal , family medicine , political science , medline , south asia , law , history , computer science , ethnology

The oculocerebrorenal (OCRL) syndrome of Lowe is an X linked, multisystem disorder characterised by a triad of abnormalities in the eyes, the nervous system and the renal tubules. It is caused by a mutation in the OCRL gene which encodes an inositol polyphosphate 5-phosphatase. This enzyme has been detected on vesicular structures of the endosomal system and the Golgi complex, and plays a main role in cellular metabolism. The deficiency of this enzyme impairs the maturation of polarizing epithelium in neurons and glia, renal proximal tubule and lens. Prevalence of this syndrome has been estimated as 1 in 500,000 .

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research