GM01210

GM01210 Fibroblast

Description:

GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
MONOZYGOTIC TWIN PAIRS

Affected:

Yes

Sex:

Male

Age:

9 MO (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Carbohydrate Metabolism

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Ethnicity

DOMINICAN REPUBLICAN

Family Member

Relation to Proband

twin

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; monozygotic twin (single placenta) of GM01209; no detectable transferase activity; donor subject is homozygous for a G>C transition at nucleotide 292 of the GALT gene (c.292G>C) resulting in the substitution of histidine for aspartic acid at codon 98 [Asp98His (D98H)]

Characterizations

PDL at Freeze

4.4

Passage Frozen

UDP-glucose--hexose-1-phosphate uridylyltransferase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.7.12; 0% activity.

Gene

GALT

Chromosomal Location

9p13

Allelic Variant 1

D98H; GALACTOSEMIA

Identified Mutation

ASP98HIS

Gene

GALT

Chromosomal Location

9p13

Allelic Variant 2

D98H; GALACTOSEMIA

Identified Mutation

ASP98HIS

Phenotypic Data

Remarks

Publications

Brophy ML, Stansfield JC, Ahn Y, Cheng SH, Murphy JE, Bell RD, AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts Journal of inherited metabolic disease: 2021

PubMed ID: 34918784