ArticleJournal of inherited metabolic disease1998
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.
Article in Journal of inherited metabolic disease, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 56 citations in OpenAlex.
- Galactose mutarotase deficiency as the galactosemia type IV.Journal of human genetics · 2025Review
- Molecular characterization of novel and rare DNA variants in patients with galactosemia.Frontiers in genetics · 2023Article
- Galactose epimerase deficiency: lessons from the GalNet registry.Orphanet journal of rare diseases · 2022Observational
- Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.Cell biochemistry and biophysics · 2021Article
- Amelioration of obsessive-compulsive disorder in three mouse models treated with one epigenetic drug: unraveling the underlying mechanism.Scientific reports · 2019Article
- Biallelic GALM pathogenic variants cause a novel type of galactosemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).Human molecular genetics · 2019Article
- Galactose Epimerase Deficiency: Expanding the Phenotype.JIMD reports · 2017Article
- Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.Human molecular genetics · 2016Article
- A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.JIMD reports · 2013Article
- Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.Biochimica et biophysica acta · 2012Article
- Article
- Metabolic cross-talk allows labeling of O-linked beta-N-acetylglucosamine-modified proteins via the N-acetylgalactosamine salvage pathway.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- Generalized epimerase deficiency galactosemia.Indian journal of pediatrics · 2010Article
- Galactose toxicity in animals.IUBMB life · 2009Review
- Epimerase-deficiency galactosemia is not a binary condition.American journal of human genetics · 2006Article
- Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.Journal of inherited metabolic disease · 2000Article
- UDPgalactose epimerase in lens and fibroblasts: activity expression in patients with cataracts and mental retardation.Journal of inherited metabolic disease · 2000Article
- Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.American journal of human genetics · 1999Article
- UDP-galactose 4' epimerase (GALE) is essential for development of Drosophila melanogaster.Disease models & mechanismsArticle
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited deficiencies of UDP-galactose 4-epimerase (GALE) have been associated with two distinct phenotypes. The vast majority of North American patients are clinically asymptomatic, are identified through newborn screening programmes for classical galactosaemia, and are of African-American descent. At least two symptomatic patients have been reported, one Pakistani and the other Asian Muslim, both with severe complications in the neonatal period and subsequent mental retardation. Through newborn screening, we have identified a GALE-deficient patient who is of mixed Pakistani/caucasian ancestry. He was clinically well in the neonatal period on a lactose-containing diet, and biochemical studies, including urine reducing sugars and galactitol, were consistent with a diagnosis of peripheral GALE deficiency. Although early developmental milestones were met normally, he now shows significant developmental delays in both motor and language skills. Mutational analysis revealed this patient to be a compound heterozygote at the GALE locus, with mutations N34S and L183P identified in the patient and confirmed in the parents. This report represents the first characterization of specific mutations in a GALE-deficient patient in conjunction with biochemical and clinical phenotype, and facilitates further studies of the GALE enzyme and its role in the different clinical forms of epimerase-deficiency galactosaemia.
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