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Hereditary galactosemia.
Metabolism. 2018 06; 83:188-196.M

Abstract

Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal recessive manner. The severe GALT deficiency, or classic galactosemia, is life-threatening in the newborn period. The treatment for classic galactosemia is dietary restriction of lactose. Although implementation of lactose restricted diet is efficient in resolving the acute complications, it is not sufficient to prevent long-term complications affecting the brain and female gonads, the two main target organs of damage. Implementation of molecular genetics diagnostic tools and GALT enzyme assays are instrumental in distinguishing classic galactosemia from clinical and biochemical variant forms of GALT deficiency. Better understanding of mechanisms responsible for the phenotypic variation even within the same genotype is essential to provide appropriate counseling for families. Utilization of a lactose restricted diet is also recommended for GALK deficiency and some rare forms of GALE deficiency. Novel modes of therapies are being explored; they may be beneficial if access issues to the affected tissues are circumvented and optimum use of therapeutic window is achieved.

Authors+Show Affiliations

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.Department of Pediatrics, Department of Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.Department of Pediatrics, Department of Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: gerard.berry@childrens.harvard.edu.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

29409891

Citation

Demirbas, Didem, et al. "Hereditary Galactosemia." Metabolism: Clinical and Experimental, vol. 83, 2018, pp. 188-196.
Demirbas D, Coelho AI, Rubio-Gozalbo ME, et al. Hereditary galactosemia. Metabolism. 2018;83:188-196.
Demirbas, D., Coelho, A. I., Rubio-Gozalbo, M. E., & Berry, G. T. (2018). Hereditary galactosemia. Metabolism: Clinical and Experimental, 83, 188-196. https://doi.org/10.1016/j.metabol.2018.01.025
Demirbas D, et al. Hereditary Galactosemia. Metabolism. 2018;83:188-196. PubMed PMID: 29409891.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hereditary galactosemia. AU - Demirbas,Didem, AU - Coelho,Ana I, AU - Rubio-Gozalbo,M Estela, AU - Berry,Gerard T, Y1 - 2018/01/31/ PY - 2017/11/15/received PY - 2018/01/19/revised PY - 2018/01/24/accepted PY - 2018/2/8/pubmed PY - 2019/1/29/medline PY - 2018/2/8/entrez KW - Galactose KW - Galactosemia KW - Genetics KW - Lactose KW - Metabolism SP - 188 EP - 196 JF - Metabolism: clinical and experimental JO - Metabolism VL - 83 N2 - Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal recessive manner. The severe GALT deficiency, or classic galactosemia, is life-threatening in the newborn period. The treatment for classic galactosemia is dietary restriction of lactose. Although implementation of lactose restricted diet is efficient in resolving the acute complications, it is not sufficient to prevent long-term complications affecting the brain and female gonads, the two main target organs of damage. Implementation of molecular genetics diagnostic tools and GALT enzyme assays are instrumental in distinguishing classic galactosemia from clinical and biochemical variant forms of GALT deficiency. Better understanding of mechanisms responsible for the phenotypic variation even within the same genotype is essential to provide appropriate counseling for families. Utilization of a lactose restricted diet is also recommended for GALK deficiency and some rare forms of GALE deficiency. Novel modes of therapies are being explored; they may be beneficial if access issues to the affected tissues are circumvented and optimum use of therapeutic window is achieved. SN - 1532-8600 UR - https://www.unboundmedicine.com/medline/citation/29409891/Hereditary_galactosemia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0026-0495(18)30033-7 DB - PRIME DP - Unbound Medicine ER -