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Homocystinuria with congenital/developmental cataract
K N Sulochana1, S Amirthalakshmi, S B Vasanthi
1Biochemistry Research Department, Medical Research Foundation, Sankara Nethralaya, Chennai, India.
Indian Journal of Pediatrics
|December 6, 2000
Summary
This study screened homocystinuria patients, finding a strong link between the disorder and cataracts. Early detection and tailored treatments involving amino acid therapy may prevent vision loss in these patients.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Homocystinuria is an inherited metabolic disorder.
- Cataracts are a common complication in homocystinuria.
- Understanding the biochemical basis is crucial for treatment.
Purpose of the Study:
- To screen patients for homocystinuria.
- To analyze homocystine and methionine levels in patients with and without cataracts.
- To investigate the relationship between homocystinuria types and clinical manifestations like cataracts.
Main Methods:
- Collected plasma and urine samples from 29 homocystinuric patients.
- Utilized a screening test for homocystine.
- Employed paper chromatography for quantitative analysis of homocystine and methionine.
Main Results:
- 24 out of 29 homocystinuric patients presented with cataracts.
- One patient with Type I homocystinuria had elevated serum methionine, mental retardation, and no ectopia lentis.
- Other types (II, III, IV) lacked methionine but had homocystine, with no mental retardation or ectopia lentis.
Conclusions:
- Cataracts in Type I homocystinuria may stem from cysteine deficiency and reduced glutathione, potentially treatable with a high-cystine, low-methionine diet and Vitamin B6.
- In other types, cataracts might result from insufficient amino acids for lens protein synthesis, suggesting treatment with Vitamin B12, folate, and methionine.