Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Infantile hypercalcemia is an autosomal recessive disorder caused by mutations of the CYP24A1 gene. The disease is characterized by growth retardation, polyuria and dehydration, muscular hypotonia, and nephrocalcinosis. PTH levels are suppressed and remain low even after normalization of serum calcium.
Infantile hypercalcemia can be efficiently treated by a low-calcium diet. Although serum calcium levels can be normalized PTH levels remain low.
| Hypercalciuria | |
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Hypercalciuria is most likely due to elevated plasma calcium levels. |
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Méhes K et al. (1975) Possible dominant inheritance of the idiopathic hypercalcemic syndrome. 
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SMITH DW et al. (1959) Idiopathic hypercalcemia; a case report with assays of vitamin D in the serum.
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HOOFT C et al. (1961) Familial incidence of hypercalcaemia. Extreme hypersensitivity to vitamin D in an infant whose father suffered from sarcoidosis.
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KENNY FM et al. (1963) Metabolic studies in a patient with idiopathic hypercalcemia of infancy.
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Schlingmann KP et al. (2011) Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
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Streeten EA et al. (2011) CYP24A1 mutations in idiopathic infantile hypercalcemia.
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Misselwitz J et al. (1986) [Hypercalcemia following prophylactic vitamin D administration].
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Weisman Y et al. (1979) Infantile hypercalcemia: a defect in the esterification of 1,25-dihydroxyvitamin D?
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OMIM.ORG article Omim 143880
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Orphanet article Orphanet ID 300547
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Wikipedia article Wikipedia EN (Williams_syndrome)
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