|
KMID : 0918520150150020078
|
|
Journal of the Korean Society of Inherited Metabolic Disease
2015 Volume.15 No. 2 p.78 ~ p.86
|
|
|
Clinical Features and Genetic Analysis of Homocystinuria Patients in Korea
|
|
Lee Ye-Na
Lee Jeong-Ho
Lee Dong-Hwan
|
|
|
Abstract
|
|
|
Purpose: Homocystinuria (OMIM#236200) is a metabolic disease caused by mutation in the CBS gene. This study was conducted to identify the clinical features and prognosis of homocystinuria as well as to find out the CBS gene mutations of the six homocystinuria patients who were receiving treatment in the Pediatric Department at Soonchunhyang University Hospital.
Methods: From January 1992 to March 2015, clinical, biochemical, and genetic analyses were performed retrospectively on the six patients diagnosed with classic homocystinuria at Soonchunhyang University Hospital.
Results: A total of six patients were included in this study, including three who were diagnosed with homocystinuria at the mean age of 50±22.5 days based on their abnormal newborn screening test results. The other three were diagnosed at the mean age of 7, when they visited the hospital for evaluation of developmental delay and lens dislocation. The group diagnosed at early infancy had normal cognitive function, but the other group had varying degrees of mental retardation. Major complications were found only in the group diagnosed after infancy. CBS gene mutation was found in all the patients, and they were all non-responsive to vitamin B6 treatment. At present, all patients' diets are controlled following a methionine-free formula and they are on medication with folic acid, betaine, pyridoxine, and methylcobalamin.
Conclusion: Six homocystinuria patients were monitored for up to 23 years. The group diagnosed at early infancy exhibited no major complications. Therefore, early diagnosis is crucial in the prognosis, and homocystinuria must be included in the newborn screening program.
|
|
|
KEYWORD
|
|
|
Homocystinuria, Cystathionine beta-synthase, Neonatal screening, Intellectual disability, Thromboembolism
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|