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Clinical features of galactokinase deficiency: a review of the literature.
J Inherit Metab Dis. 2002 Dec; 25(8):629-34.JI

Abstract

Galactokinase deficiency (McKusick 230200) is a rare autosomal recessive inborn error of galactose metabolism. Cataract and, rarely, pseudotumor cerebri caused by galactitol accumulation seem to be the only consistently reported abnormalities in this disorder. We performed a literature search to obtain information on the clinical spectrum of galactokinase deficiency. A total of 25 publications were traced describing 55 galactokinase-deficient patients. Cataract was reported in most patients. Clinical abnormalities other than cataract were reported in 15 (35%) out of 43 cases on which information was available. However, all symptoms were reported infrequently and a causal relationship with the galactokinase deficiency is unlikely. As cataract and pseudotumor cerebri appear to be the sole complications of galactokinase deficiency, the outcome for patients with galactokinase deficiency is much better than for patients with classical galactosaemia (McKusick 230400), a more common autosomal recessive disorder of galactose metabolism caused by galactose-1-phosphate uridyltransferase (GALT; EC 2.7.7.12) deficiency. Long-term follow-up of patients with this disorder has shown that, in spite of a severely galactose-restricted diet, most patients develop abnormalities such as a disturbed mental and/or motor development, dyspraxia and hypergonadotropic hypogonadism. Endogenous production of galactose has been considered an important aetiological factor. Although damage may well occur in utero, available evidence suggests that damage will continue after birth. Inhibition of galactokinase may then be a promising approach for controlling damage in GALT-deficient patients.

Authors+Show Affiliations

Emma Children's Hospital, Amsterdam, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

12705493

Citation

Bosch, A M., et al. "Clinical Features of Galactokinase Deficiency: a Review of the Literature." Journal of Inherited Metabolic Disease, vol. 25, no. 8, 2002, pp. 629-34.
Bosch AM, Bakker HD, van Gennip AH, et al. Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis. 2002;25(8):629-34.
Bosch, A. M., Bakker, H. D., van Gennip, A. H., van Kempen, J. V., Wanders, R. J., & Wijburg, F. A. (2002). Clinical features of galactokinase deficiency: a review of the literature. Journal of Inherited Metabolic Disease, 25(8), 629-34.
Bosch AM, et al. Clinical Features of Galactokinase Deficiency: a Review of the Literature. J Inherit Metab Dis. 2002;25(8):629-34. PubMed PMID: 12705493.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical features of galactokinase deficiency: a review of the literature. AU - Bosch,A M, AU - Bakker,H D, AU - van Gennip,A H, AU - van Kempen,J V, AU - Wanders,R J A, AU - Wijburg,F A, PY - 2003/4/23/pubmed PY - 2003/10/22/medline PY - 2003/4/23/entrez SP - 629 EP - 34 JF - Journal of inherited metabolic disease JO - J Inherit Metab Dis VL - 25 IS - 8 N2 - Galactokinase deficiency (McKusick 230200) is a rare autosomal recessive inborn error of galactose metabolism. Cataract and, rarely, pseudotumor cerebri caused by galactitol accumulation seem to be the only consistently reported abnormalities in this disorder. We performed a literature search to obtain information on the clinical spectrum of galactokinase deficiency. A total of 25 publications were traced describing 55 galactokinase-deficient patients. Cataract was reported in most patients. Clinical abnormalities other than cataract were reported in 15 (35%) out of 43 cases on which information was available. However, all symptoms were reported infrequently and a causal relationship with the galactokinase deficiency is unlikely. As cataract and pseudotumor cerebri appear to be the sole complications of galactokinase deficiency, the outcome for patients with galactokinase deficiency is much better than for patients with classical galactosaemia (McKusick 230400), a more common autosomal recessive disorder of galactose metabolism caused by galactose-1-phosphate uridyltransferase (GALT; EC 2.7.7.12) deficiency. Long-term follow-up of patients with this disorder has shown that, in spite of a severely galactose-restricted diet, most patients develop abnormalities such as a disturbed mental and/or motor development, dyspraxia and hypergonadotropic hypogonadism. Endogenous production of galactose has been considered an important aetiological factor. Although damage may well occur in utero, available evidence suggests that damage will continue after birth. Inhibition of galactokinase may then be a promising approach for controlling damage in GALT-deficient patients. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/12705493/Clinical_features_of_galactokinase_deficiency:_a_review_of_the_literature_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=2002&volume=25&issue=8&spage=629 DB - PRIME DP - Unbound Medicine ER -