Late Diagnosis of Primary Hyperoxaluria by Crystals in the Bone Marrow! | Zendy

Mohammed A. Hameed | Zendy; Kashif Eqbal | Zendy; Beeir | Zendy; Alexander Woywodt | Zendy; Aimun Ahmed | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Late Diagnosis of Primary Hyperoxaluria by Crystals in the Bone Marrow!

Author(s) -

Mohammed A. Hameed,

Kashif Eqbal,

Beeir,

Alexander Woywodt,

Aimun Ahmed

Publication year - 2015

Publication title -

nephrology point of care

Language(s) - English

Resource type - Journals

ISSN - 2059-3007

DOI - 10.5301/napoc.2015.14679

Subject(s) - primary hyperoxaluria , glyoxylate cycle , peroxisome , metabolic disorder , disease , medicine , bone marrow , pathology , endocrinology , biology , gastroenterology , kidney , metabolism , receptor

Primary hyperoxaluria type 1 (PH1) is a rare, inherited, autosomal recessive, metabolic disorder caused by a deficiency of peroxisomal alanine-glyoxylate aminotransferase (AGT). We describe here a case of a 57-year-old man with End Stage Renal Disease, where the late age of presentation of PH T1 due to marked heterogeneity of disease expression caused a delay in diagnosis, and we discuss the causes of the poor outcome typical of this condition

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