Description:
GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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3
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| MUTATION VERIFICATION |
Reichardt et al (Am J Hum Genet 49:860-867 1991) reported that DNA isolated from this parent heterozygous for galactosemia had a missence mutation in one of his GALT alleles. The mutation is a transition of C to T at nucleotide 1025 that leads to the replacement of arginine 333 by tryptophan (R333W). |
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| Gene |
GALT |
| Chromosomal Location |
9p13 |
| Allelic Variant 1 |
606999.0002; GALACTOSEMIA |
| Identified Mutation |
ARG333TRP; In a classic galactosemic patient, Reichardt and Woo [Am J Hum Genet 47: A164 (1990); Proc Natl Acad Sci U S A 88: 2633 (1991)] found a methionine-to-lysine change at a position that is conserved in all eukaryotes sequenced to date but in none of the prokaryotes. The mutation reduced the specific activity of the mutated protein to about 4% of normal. |
| Remarks |
Two children with classic galactosemia; despite well documented adequate dietary management since birth, both children were ment retarded & both had tremor & prom cerebellar signs; parent has carrier level of transferase activ; GALT gene mutation: 1025C>T [Arg333Trp (R333W)] |
| Reichardt JK, Packman S, Woo SL, Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase. Am J Hum Genet49:860-7 1991 |
| PubMed ID: 1897530 |
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| Lo W, Packman S, Nash S, Schmidt K, Ireland S, Diamond I, Ng W, Donnell G, Curious neurologic sequelae in galactosemia. Pediatrics73:309-12 1984 |
| PubMed ID: 6701054 |
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