GM23958
LCL from B-Lymphocyte
Description:
HYPERGLYCEROLEMIA
GLYCEROL KINASE; GK
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
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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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LCL from B-Lymphocyte
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Race
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Not Reported
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Country of Origin
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USA
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Family History
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N
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Relation to Proband
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proband
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ISCN
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46,XY.arr 3q12.2(100340055-100442478)x3
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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 LINE assay |
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| Gene |
GK |
| Chromosomal Location |
Xp21.3-p21.2 |
| Allelic Variant 1 |
; GLYCEROL KINASE DEFICIENCY, ISOLATED |
| Identified Mutation |
R405Q |
| Remarks |
Clinically affected with juvenile type; onset of symptoms and seizures on day 2 of life; diagnosed at age 3; admitted to hospital at 3 1/2 years of age with vomiting, lethargy, and hypoglycemia (blood glucose 22 mg/dl) resulting in seizures; on physical exam liver was 2 cm below right costal margin; during a 22 hour fasting challenge, blood glucose did not go below 66 mg/dl; he was ketonuric and clinically asymptomatic; organic acid screen revealed large amount of glycerol-blood/urine amino acid analysis unremarkable; urinary glycerol in the fasting state was 37.6 mg/mg creatinine (normal undetectable) and increased to 64.1 mg/mg creatinine after a fatty meal; metabolic and CNS deterioration; mental retardation; mildly developmentally delayed: walked at 18 months, single words at 18 months, speaking in phrases at 22 months; at 6 years 2 months of age Wechsler IQ was 84-verbal 95, non-verbal 74; at age 7 1/2 his IQ dropped from average to low average and triglycerides were at 211-361 mg/dl and cholesterol was at 132-162 mg/dl; GK activity level: 11.6%; subject has a missense mutation in GK gene: 1214G>A:R405Q. |
| Dipple KM, Zhang YH, Huang BL, McCabe LL, Dallongeville J, Inokuchi T, Kimura M, Marx HJ, Roederer GO, Shih V, Yamaguchi S, Yoshida I, McCabe ER, Glycerol kinase deficiency: evidence for complexity in a single gene disorder Human genetics109:55-62 2001 |
| PubMed ID: 11479736 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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