Literature DB >> 2122117

Cataract and metabolic disease.

W Endres1, Y S Shin.   

Abstract

In addition to the already recognized metabolic diseases which have been associated with cataract formation, e.g. galactosaemia, galactokinase deficiency, Lowe's syndrome and diabetes, several other disorders can also lead to the development of cataracts. They are sorbitol dehydrogenase deficiency, uridine diphosphate galactose-4-epimerase deficiency, marginal maternal transferase and galactokinase deficiency, galactitol and sorbitol accumulation of unknown origin, heterozygosity for galactosaemia and galactokinase deficiency as well as the carrier state for Lowe's syndrome. In this review these metabolic disorders have been divided into five groups according to the age at the first appearance of lens clouding and the possible means of treatment have been discussed.

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Year:  1990        PMID: 2122117     DOI: 10.1007/bf01799508

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  36 in total

1.  Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise.

Authors:  R C Sengers; J M Trijbels; J L Willems; O Daniels; A M Stadhouders
Journal:  J Pediatr       Date:  1975-06       Impact factor: 4.406

2.  Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.

Authors:  C U LOWE; M TERREY; E A MacLACHLAN
Journal:  AMA Am J Dis Child       Date:  1952-02

3.  Hyperglycinuria in a family with autosomal dominantly inherited cataract.

Authors:  S Similä; M L Käär
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

4.  Mannosidosis: a clinical and histopathologic study.

Authors:  B Kjellman; I Gamstorp; A Brun; P A Ockerman; B Palmgren
Journal:  J Pediatr       Date:  1969-09       Impact factor: 4.406

5.  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

6.  Fat malabsorption, vitamin E deficiency, scoliosis and cataracts.

Authors:  R D Griffiths; C J Taylor; D M Isherwood; M J Jackson
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

7.  Sorbitol dehydrogenase deficiency in a family with congenital cataracts.

Authors:  Y S Shin; M Rieth; W Endres; P Haas
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

8.  Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts.

Authors:  G Vaca; B Ibarra; M Bracamontes; D García-Cruz; J Sánchez-Corona; C Medina; C Wunsch; G González-Quiroga; J M Cantú
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

9.  Lactose intolerance associated with cataracts.

Authors:  Y Hirashima; S Shinozuka; T Ieiri; I Matsuda; Y Ono; T Murata
Journal:  Eur J Pediatr       Date:  1979-01-18       Impact factor: 3.183

10.  Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency.

Authors:  J T Prchal; M E Conrad; H W Skalka
Journal:  Lancet       Date:  1978-01-07       Impact factor: 79.321

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  10 in total

1.  UDPgalactose epimerase in lens and fibroblasts: activity expression in patients with cataracts and mental retardation.

Authors:  Y S Shin; G C Korenke; P Huppke; I Knerr; T Podskarbi
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism.

Authors:  M M C Wamelink; D E C Smith; C Jakobs; N M Verhoeven
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

Review 3.  Inherited metabolic diseases affecting the carrier.

Authors:  W Endres
Journal:  J Inherit Metab Dis       Date:  1997-03       Impact factor: 4.982

Review 4.  Galactose disorders: an overview.

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

5.  Epimerase-deficiency galactosemia is not a binary condition.

Authors:  Kimberly K Openo; Jenny M Schulz; Claudia A Vargas; Corey S Orton; Michael P Epstein; Rhonda E Schnur; Fernando Scaglia; Gerard T Berry; Gary S Gottesman; Can Ficicioglu; Alfred E Slonim; Richard J Schroer; Chunli Yu; Vanessa E Rangel; Jennifer Keenan; Kerri Lamance; Judith L Fridovich-Keil
Journal:  Am J Hum Genet       Date:  2005-11-14       Impact factor: 11.025

6.  Influence of Visible Violet, Blue and Red Light on the Development of Cataract in Porcine Lenses.

Authors:  Katja Zeller; Stephan Mühleisen; Pranavi Shanmugarajah; Nicole Fehler; Robin Haag; Martin Hessling
Journal:  Medicina (Kaunas)       Date:  2022-05-27       Impact factor: 2.948

7.  Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.

Authors:  T M Wohlers; N C Christacos; M T Harreman; J L Fridovich-Keil
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

8.  Ophthalmic findings in classical galactosaemia--prospective study.

Authors:  B Beigi; M O'Keefe; R Bowell; E Naughten; N Badawi; B Lanigan
Journal:  Br J Ophthalmol       Date:  1993-03       Impact factor: 4.638

9.  The significance of opthalmologic evaluation in the early diagnosis of inborn errors of metabolism: the Cretan experience.

Authors:  Daria P Tsagaraki; Athanasios E Evangeliou; Miltiadis Tsilimbaris; Martha G Spilioti; Eleni P Mihailidou; Christos Lionis; Ioannis Pallikaris
Journal:  BMC Ophthalmol       Date:  2002-04-11       Impact factor: 2.209

10.  Pseudoexfoliation and Cataract Syndrome Associated with Genetic and Epidemiological Factors in a Mayan Cohort of Guatemala.

Authors:  Patrice M Hicks; Elizabeth Au; William Self; Benjamin Haaland; Michael Feehan; Leah A Owen; Adam Siedlecki; Elizabeth Nuttall; Deborah Harrison; Andrew L Reynolds; John H Lillvis; Sandra Sieminski; Julia P Shulman; Margarita Barnoya; Juan Jose Noguera Prera; Orlando Gonzalez; Maureen A Murtaugh; Lloyd B Williams; Michael H Farkas; Alan S Crandall; Margaret M DeAngelis
Journal:  Int J Environ Res Public Health       Date:  2021-07-06       Impact factor: 3.390

  10 in total

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