Description:
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Alternate IDs |
GM17075 [OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS] |
| 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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Ethnicity
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PUERTO RICAN
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Family Member
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1
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Relation to Proband
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proband
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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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| carbonate dehydratase (carbonic anhydrase II) |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 4.2.1.1 |
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| Remarks |
Puerto Rican; chronic acidosis, cerebral calcifications, poor weight gain, & mild developmental delay; parents are first cousins; deficient RBC carbonic anhydrase II activity |
| Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, Vainsel M, Baluarte HJ, Gruskin A, Al-Mosawi M, et al, Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med313:139-45 1985 |
| PubMed ID: 3925334 |
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