Plasma Polyol Levels in Patients with Cataract

Jakobs, Cornelis; Douwes, A. C.; Brockstedt, Matthias; Stellaard, Frans; Endres, W.; Shin, Yoon S.

doi:10.1007/978-94-009-2175-7_13

Cited by 2 publications

(3 citation statements)

References 12 publications

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“…Since cataracts are not observed in all obligate heterozygotes for galactosaemia or galactokinase deficiency, it may be speculated that cataract formation may depend on individuals' galactose intake. In addition, some patients with cataracts and reduced red cell activity of uridine diphosphate galactose-4-epimerase (UDP Gal-4epimerase; EC 5.1.3.2; McKusick 230350) (Jakobs et al 1990) could be considered as being heterozygous for UDP Gal-4-epimerase deficiency.…”

Section: Disorders Whose Expression Is Influenced By Dietary Factorsmentioning

confidence: 99%

Inherited metabolic diseases affecting the carrier

Endres

1997

J of Inher Metab Disea

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The objective of this review is to draw attention to those inherited metabolic traits which are potentially harmful also for the carrier, and to outline preventive measures, at least for obligate heterozygotes, i.e. parents of homozygous children. Concerning carriers of food-dependent abnormalities, early vascular disease in homocystinuria, hyperammonaemic episodes in ornithine transcarbamylase deficiency, presenile cataracts in galactosaemia as well as galactokinase deficiency, spastic paraparesis in X-linked adrenoleukodystrophy, and HELLP syndrome in mothers of babies with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency have to be mentioned. In the group of food-independent disorders, clinical features in carriers may be paraesthesias and corneal dystrophy in Fabry disease, lens clouding in Lowe syndrome, lung and/or liver diseases in alpha 1-antitrypsin deficiency, and renal stones in cystinuria type II and III. Finally, two monogenic carrier states are known which in pregnant individuals could possibly afflict the developing fetus, i.e. heterozygosity for galactosaemia and for phenylketonuria. Elevated levels of galactose-1-phosphate have been found in red blood cells of infants heterozygous for galactosaemia born to heterozygous mothers. Aspartame in very high doses is reported to increase blood phenylalanine levels in heterozygotes for phenylketonuria, thus being a risk for the fetus of a heterozygous mother. For some of these carrier states preventive measures can be recommended, e.g. restriction of lactose in parents and heterozygous grandparents of children with galactosaemia and galactokinase deficiency as well as transiently in infants heterozygous for galactosaemia, dietary supplementation with monounsaturated fatty acids in symptomatic carriers for X-linked adrenoleukodystrophy, avoidance of smoking and alcohol in heterozygotes for alpha 1-antitrypsin deficiency, avoidance of episodes of dehydration in heterozygotes for cystinuria, and restriction of aspartame in pregnant women.

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Section: Disorders Whose Expression Is Influenced By Dietary Factorsmentioning

confidence: 99%

Inherited metabolic diseases affecting the carrier

Endres

1997

J of Inher Metab Disea

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“…The cataract patients showed distinctly low sorbitol dehydrogenase activity in erythrocytes compared with a control group of individuals without cataract. Jakobs et al (1990) found that patients with unexplained congenital infantile cataract had elevated plasma galactitol or sorbitol levels.…”

Section: Case Seriesmentioning

confidence: 99%

“…Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and ⁄or G1391A mutations Dieter Schmidt, 1 Yoon S. Shin, 2 Claudia Auw-Haedrich 1 and Uta Tacke 3 and galactitol in the lenticular eye tissue are essential for the formation of galactosaemic or even diabetic cataracts (Shin et al 1984;Jakobs et al 1990). Shin et al (1984) investigated the sorbital dehydrogenase activity in erythrocytes and galactokinase (GK), galactose-1-phosphate uridyltransferase (GALT) and uridine diphosphate (UdP)-galactose epimerase activity in patients with congenital cataracts.…”

Section: Case Seriesmentioning

confidence: 99%

Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations

Schmidt

Shin²,

Auw-Haedrich

et al. 2010

Acta Ophthalmologica

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. Purpose: Observations of multiple ocular malformations together with heterozygosity for galactosaemia in siblings and homozygosity in one child are highly unusual. In these case histories, a series of investigations in one family are reported. Methods: Members of a family of two brothers and one sister and their children were pre‐ and post‐surgically examined over several years. Blood examination was carried out in a laboratory specializing in investigation into genetic diseases (Dr Podskarbi, Munich). Results: Two brothers and one sister suffered from cataract‐induced visual deterioration at 38, 34 and 35 years of age, respectively. All three siblings reported having had bilateral poor vision since early childhood. The three siblings’ parents had no congenital ocular malformations, nor was there any parental consanguinity. One child, the 10‐year‐old son of the 35‐year‐old sister, exhibited classic galactosaemia and normal ocular findings. This sister’s other child was healthy. All three siblings presented congenital lens luxa‐tion, axial myopia, cataract and iridodonesis. In addition, the 34‐year‐old brother showed unilateral right corectopia and left coloboma adjacent to the optic disc. The 38‐year‐old brother revealed myopic fundus changes, but no coloboma. The three siblings experienced a distinct increase in visual acuity after cataract surgery. Both eyes of the patients were partially or distinctly amblyopic, respectively. We assume an autosomal‐recessive transmission. Molecular genetic examination of the 10‐year‐old child with classic galactosaemia showed homozygosity for the mutation Q188R with a complete galactose‐1‐phosphate‐uridyltransferase (GALT) deficiency. Because of his galactose‐free diet, the child showed normal values for galactose‐1‐phosphate. The 35‐year‐old mother showed compound heterozygosity for Q188R and G1391A (D2/G). The 10‐year‐old boy’s father also revealed heterozygosity for galactosaemia caused by GALT deficiency. The two children of the 38‐year‐old brother were heterozygous for G1391A. They did not show any clinical abnormality. None of the family members had clinical signs of Marfan’s syndrome or homocysteinuria. The three siblings’ parents were not consanguineous. Conclusions: Patients with worsening cataracts occurring at a pre‐senile age should be examined for galactosaemia. We describe for the first time the molecular genetic findings in congenital ectopia lentis et pupillae. Early treatment in conjunction with a galactose‐free diet is mandatory in patients with galactosaemia. Members of a family with heterozygosity for galactosaemia should be advised to attend a human genetic consultation.

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Plasma Polyol Levels in Patients with Cataract

Cited by 2 publications

References 12 publications

Inherited metabolic diseases affecting the carrier

Inherited metabolic diseases affecting the carrier

Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations

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