Homocystinuria with congenital/developmental cataract.
The aim of the study is to screen patients for homocystinuria with and without cataract and analyse for homocystine and methionine. Fifty-eight samples from 29 patients, i.e., plasma and urine collected after overnight fasting were analysed by the screening test for homocystine, and paper chromatography for homocystine and methionine. Out of 29 homocystinuric patients, 24 had cataract. Only one had appreciable amounts of methionine in his serum. He also had mental retardation as expected and belongs to Type I. The other types did not have methionine but had only homocystine. There was no mental retardation or ectopia lentis. So they belonged to Types II, III or IV. As there is excess methionine in Type I, with low cystine, cataract may be due to deficiency of cysteine and reduced glutathione and might be averted by suitable therapy, i.e., high cystine-low methionine diet with B6. In other types with low methionine, cataract may be due to decreased availability of amino acids for the synthesis of lens proteins; the treatment of choice should be B12, and folate with methionine.
Sulochana
K N
KN
Biochemistry Research Department, Medical Research Foundation, Sankara Nethralaya, Chennai, India.
Amirthalakshmi
S
S
Vasanthi
S B
SB
Tamilselvi
R
R
Ramakrishnan
S
S
D000328:Adult; D002386:Cataract / Q000151:congenital / Q000453:epidemiology / Q000209:etiology*; D002648:Child; D002854:Chromatography, Paper; D005260:Female; D006711:Homocystine / Q000097:blood / Q000652:urine; D006712:Homocystinuria / Q000145:classification / Q000150:complications* / Q000378:metabolism / Q000628:therapy; D006801:Humans; D008297:Male; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D008715:Methionine / Q000097:blood; D011736:Pyridoxine / Q000627:therapeutic use
D006711:Homocystine; D008715:Methionine; D011736:Pyridoxine