Premium
Frequency of homocystinuria amongst the blind
Author(s) -
Zavala C.,
Cobo A.,
Lisker R.,
Chavez Y.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01128.x
Subject(s) - homocystinuria , cystine , medicine , urine , cystathionine beta synthase , cystinuria , albinism , pediatrics , homocysteine , blindness , genetics , biochemistry , amino acid , chemistry , biology , methionine , optometry , cysteine , enzyme
Two hundred and ninety‐seven blind Mexican individuals were screened for sulfur‐containing amino acids in the urine, using cyanide‐nitroprusside and silver‐nitroprusside tests. Samples giving positive or doubtful results were further investigated by one‐way paper chromatography. Five patients with homocystinuria were found; two of them had congenital cataract, one had optic disc atrophy, one had pigmentary retinosis and the remaining one had albinism. Excluding cases due to environmental factors, the prevalence of homocystinuria among blind people in Mexico City comes close to two per cent.