Homocystinuria

Definition:

Homocystinuria is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems.

References:

[1]. Daniel Palanca, et al. cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period. JIMD Rep. 2013;8:57-62. [Content Brief]

[2]. L A Kluijtmans, et al. Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. Eur J Hum Genet. 1998 May-Jun;6(3):257-65. [Content Brief]

[3]. M Orendác, et al. Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. J Inherit Metab Dis. 2003;26(8):761-73. [Content Brief]

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