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Literature DB >> 8457508

Ophthalmic findings in classical galactosaemia--prospective study.

B Beigi¹, M O'Keefe, R Bowell, E Naughten, N Badawi, B Lanigan.

Abstract

Thirty three children with classical galactosaemia diagnosed through newborn screening are considered. It is concluded that cataract formation has a direct relationship with poor dietary control. Erythrocyte galactose-1-phosphate (Gal-1-P) levels do not correspond to cataract formation unless many times higher than normal. The value of crystalline lens biomicroscopy is confirmed as a useful method for monitoring the dietary and biochemical control in classical galactosaemia.

Entities: Chemical Disease Species

Mesh：

Substances：

Year: 1993 PMID： 8457508 PMCID： PMC504462 DOI： 10.1136/bjo.77.3.162

Source DB: PubMed Journal: Br J Ophthalmol ISSN： 0007-1161 Impact factor: 4.638

12 in total

1. Galactosemia, a congenital defect in a nucleotide transferase.

Authors: H M KALCKAR; E P ANDERSON; K J ISSELBACHER
Journal: Biochim Biophys Acta Date: 1956-04

2. Deficit of uridine diphosphate galactose in galactosaemia.

Authors: W G Ng; Y K Xu; F R Kaufman; G N Donnell
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

3. A simple spot screening test for galactosemia.

Authors: E Beutler; M C Baluda
Journal: J Lab Clin Med Date: 1966-07

4. Cataracts in children with classical galactosaemia and in their parents.

Authors: J P Burke; M O'Keefe; R Bowell; E R Naughten
Journal: J Inherit Metab Dis Date: 1988 Impact factor: 4.982

Review 5. Galactose and cataract.

Authors: D Stambolian
Journal: Surv Ophthalmol Date: 1988 Mar-Apr Impact factor: 6.048

6. Metabolic studies of galactosemic cataract.

Authors: H M Cheng; H Xiong; J Xiong; K Tsubota
Journal: Exp Eye Res Date: 1990-10 Impact factor: 3.467

7. Idiopathic presenile cataract formation and galactosaemia.

Authors: R E Stevens; M B Datiles; S K Srivastava; N H Ansari; A E Maumenee; W J Stark
Journal: Br J Ophthalmol Date: 1989-01 Impact factor: 4.638

Review 8. Galactose disorders: an overview.

Authors: J B Holton
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

Ophthalmic findings in classical galactosaemia--prospective study.

1. Galactosemia, a congenital defect in a nucleotide transferase.

2. Deficit of uridine diphosphate galactose in galactosaemia.

3. A simple spot screening test for galactosemia.

4. Cataracts in children with classical galactosaemia and in their parents.

Review 5. Galactose and cataract.

6. Metabolic studies of galactosemic cataract.

7. Idiopathic presenile cataract formation and galactosaemia.

Review 8. Galactose disorders: an overview.

9. Curious neurologic sequelae in galactosemia.

10. Ophthalmic findings in classical galactosemia--a screened population.

Review 1. Appropriateness of newborn screening for classic galactosaemia: a systematic review.

2. Biochemical monitoring of treatment for galactosaemia: biological variability in metabolite concentrations.

3. Diet and visually significant cataracts in galactosaemia: is regular follow up necessary?

Review 4. The role of polyols in the pathophysiology of hypergalactosemia.

Review 5. Pediatric cataract: challenges and future directions.

Review 6. Diagnosing the oil drop: A case report and review of the literature.