Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25‐(OH)2D3 in Affected Patients
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DOI: 10.1002/jbmr.3135
Abstract: CYP24A1 mutations are now accepted as a cause of idiopathic infantile hypercalcemia (IIH). A rapid liquid‐chromatography tandem mass spectrometry (LC‐MS/MS)‐based blood test enabling measurement of the 25‐OH‐D3:24,25‐(OH)2D3 ratio (R) can identify IIH patients on the… read more here.
Keywords: serum 2d3; infantile hypercalcemia; iih; idiopathic infantile ... See more keywords
3′ Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1
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DOI: 10.1002/jbmr.4769
Abstract: Loss‐of‐function mutations in the CYP24A1 protein‐coding region causing reduced 25 hydroxyvitamin D (25OHD) and 1,25 dihydroxyvitamin D (1,25(OH)2D) catabolism have been observed in some cases of infantile hypercalcemia type 1 (HCINF1), which can manifest as… read more here.
Keywords: untranslated region; hypercalcemia; infantile hypercalcemia; structural elements ... See more keywords
Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants.
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DOI: 10.1111/cen.70064
Abstract: BACKGROUND Inactivating pathogenic variants (PVs) in CYP24A1 (MIM*126065), which encodes the enzyme vitamin D-24-hydroxylase, were initially identified in patients with infantile hypercalcemia (IH). Although CYP24A1 PVs were originally associated with a recessive inheritance pattern, it… read more here.
Keywords: nephrocalcinosis; eight patients; cyp24a1; clinical molecular ... See more keywords
GP56 Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.122
Abstract: Introduction The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia and is a genetic risk factor for the development of symptomatic hypercalcemia that may be triggered… read more here.
Keywords: hypercalcemia; infantile hypercalcemia; idiopathic infantile; vitamin ... See more keywords
Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia
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DOI: 10.1186/s13023-024-03135-8
Abstract: Objective Idiopathic infantile hypercalcemia (IIH) is a rare disorder of PTH-independent hypercalcemia. CYP24A1 and SLC34A1 gene mutations cause two forms of hereditary IIH. In this study, the clinical manifestations and molecular aspects of six new… read more here.
Keywords: idiopathic infantile; infantile hypercalcemia; cyp24a1 slc34a1; biallelic monoallelic ... See more keywords
MON-253 Severe Infantile Hypercalcemia in Williams-Beuren Syndrome
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DOI: 10.1210/js.2019-mon-253
Abstract: Abstract Background: Williams-Beuren Syndrome (WBS) is due to a microdeletion on chromosome 7q11, and is associated with facial dysmorphisms, supravalvular aortic stenosis, a sociable personality and infantile hypercalcemia that is clasically mild and transient. Here… read more here.
Keywords: wbs; williams beuren; infantile hypercalcemia; beuren syndrome ... See more keywords
Vitamin D and Diseases of Mineral Homeostasis: A Cyp24a1 R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1
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DOI: 10.3390/nu14153221
Abstract: Infantile hypercalcemia type 1 (HCINF1), previously known as idiopathic infantile hypercalcemia, is caused by mutations in the 25-hydroxyvitamin D 24-hydroxylase gene, CYP24A1. The R396W loss-of-function mutation in CYP24A1 is the second most frequent mutated allele… read more here.
Keywords: hypercalcemia type; infantile hypercalcemia; cyp24a1 r396w; hypercalcemia ... See more keywords