Type 1A Vitamin D Hydroxylation-Deficient Rickets

PROM mutation in CYP27B1 gene

Also Known As:

Vitamin D Hydroxylation-Deficient Rickets, Type 1A; 1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective; 1-Alpha-Hydroxylase Deficiency; 25-Hydroxycholecalciferol-1-Hydroxylase Deficiency; PDDR1A; Pseudovitamin D-Deficiency Rickets, Type IA; VDDR1A; Vitamin D Dependency, Type 1; Vitamin D-Dependent Rickets, Type 1A

Networked: 22 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Secondary Hyperparathyroidism
2.	Type 1A Vitamin D Hydroxylation-Deficient Rickets
3.	Rickets (Rachitis)
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Hypocalcemia

Experts

1.	Shi, Yufei: 4 articles (01/2020 - 09/2012)
2.	Al-Rijjal, Roua A: 3 articles (01/2020 - 09/2012)
3.	Zou, Minjing: 3 articles (01/2020 - 09/2012)
4.	Demir, Korcan: 2 articles (12/2017 - 01/2015)
5.	Durmaz, Erdem: 2 articles (01/2015 - 09/2012)
6.	Meyer, Brian: 2 articles (01/2015 - 09/2012)
7.	Al Homyani, Doua Khalid: 1 article (01/2022)
8.	Alhemaiani, Shahad Khalid: 1 article (01/2022)
9.	Blackburn, Marie-Eve: 1 article (01/2022)
10.	Bonenfant, Chloé: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 1A Vitamin D Hydroxylation-Deficient Rickets:

1.	25-Hydroxyvitamin D3 1-alpha-Hydroxylase (25 Hydroxyvitamin D3 1 alpha Hydroxylase)IBA 02/23/2023 - "This study was aimed to determine the clinical spectrum and diagnostic challenges of VDDR1A due to CYP27B1 mutation in developing countries. " 01/01/2022 - "Our study extends the mutational spectrum of VDDR1A and finds a hotspot variant of the CYP27B1 gene in southern China. " 02/23/2023 - "Retrospective review of all cases of VDDR1A due to CYP27B1 mutation over a period of two years presenting in the Pediatric Endocrine clinic of Hameed Latif Hospital, Lahore, Pakistan. " 01/01/2020 - "Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error." 06/01/2019 - "A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene."
2.	CalciumIBA 01/01/2015 - "In conclusion, a U-Ca/Cr ratio of less than 0.1 (mg/mg) in VDDR1A patients is useful to accurately evaluate calcium depletion and secondary hyperparathyroidism. " 01/01/2015 - "First, low U-Ca/Cr was detected in situations with calcium depletion without hyperparathyroidism in the VDDR1A patients. " 03/01/2018 - "The dental aberration of VDDR1A is more in line with the dental aberration of nutritional rickets than with the dental aberrations in XLH, suggesting the combination of low availability of both calcium and phosphate to be critical in periods of enamel formation. " 01/01/2015 - "Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A." 01/01/2015 - "The aim of this study is to evaluate whether urinary calcium to creatinine ratio (U-Ca/Cr) is useful as a biomarker of secondary hyperparathyroidism in VDDR1A patients in order to determine the proper dose of alfacalcidol. "
3.	Therapeutic UsesIBA 01/01/2022 - "This study aims to investigate the phenotypic and genotypic features of VDDR1A children in southern China and evaluate the long-term therapeutic effects. "
4.	Biomarkers (Surrogate Marker)IBA 01/01/2015 - "The aim of this study is to evaluate whether urinary calcium to creatinine ratio (U-Ca/Cr) is useful as a biomarker of secondary hyperparathyroidism in VDDR1A patients in order to determine the proper dose of alfacalcidol. "
5.	CreatinineIBA 01/01/2015 - "Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A." 01/01/2015 - "The aim of this study is to evaluate whether urinary calcium to creatinine ratio (U-Ca/Cr) is useful as a biomarker of secondary hyperparathyroidism in VDDR1A patients in order to determine the proper dose of alfacalcidol. "
6.	alfacalcidolIBA 01/01/2015 - "Patients with vitamin D-dependent rickets type 1A (VDDR1A) are usually treated with alfacalcidol, an analog of vitamin D. " 01/01/2015 - "The aim of this study is to evaluate whether urinary calcium to creatinine ratio (U-Ca/Cr) is useful as a biomarker of secondary hyperparathyroidism in VDDR1A patients in order to determine the proper dose of alfacalcidol. "
7.	Vitamin D FDA LinkGeneric 01/01/2019 - "VDDR1A should definitely be considered when a patient with signs of rickets has a normal 25-OHD level or when there is unresponsiveness to vitamin D treatment." 02/01/2019 - "The first group consists of genetic disorders of Vitamin D biosynthesis and action, such as Vitamin D-dependent rickets Type 1A, Type 1B, Type 2A (VDDR2A) and Type 2B. " 03/01/2018 - "ᅟOBJECTIVES: Vitamin-D-dependent rickets type 1A (VDDR1A) is a rare inherited disease caused by defective activation of vitamin D. " 12/30/2017 - "The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B). " 06/25/2021 - "Vitamin D dependent rickets type 1A (VDDR-1A) is a very rare autosomal recessive disorder caused by mutations in the CYP27B1, which encodes vitamin D 1α-hydroxylase. "
8.	EnzymesIBA 09/01/2016 - "Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. " 10/01/2023 - "Vitamin D-dependent rickets type 1A (VDDR1A) is a rare genetic disease associated with loss-of-function variations in the gene encoding the vitamin D-activating enzyme 1α-hydroxylase (CYP27B1). " 07/01/2023 - "Vitamin D hydroxylation-deficient rickets type 1A is an autosomal recessive disorder caused by pathogenic variants in CYP27B1 gene, which encodes for 1α-hydroxylase, the enzyme responsible for the conversion of 25-OH vitamin D into its active form 1,25(OH)2 vitamin D. " 01/01/2022 - "VDDR1A is caused by a mutation in the CYP27B1 gene, which impairs the 1 hydroxylase enzyme, which compromises vitamin-D production."
9.	hydroxide ionIBA 12/07/2023 - "Although VDDR1A is an infrequently diagnosed pathology in adulthood, in cases of hypocalcaemia with elevated PTH values, determination of the 1,25(OH)2D3 and 25(OH)D3 forms of vitamin D is relevant to reach a correct diagnosis." 09/01/2016 - "The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D3). " 07/01/2023 - "Vitamin D hydroxylation-deficient rickets type 1A is an autosomal recessive disorder caused by pathogenic variants in CYP27B1 gene, which encodes for 1α-hydroxylase, the enzyme responsible for the conversion of 25-OH vitamin D into its active form 1,25(OH)2 vitamin D. " 06/01/2019 - "The patient exhibited the typical laboratory findings of VDDR1A, including hypocalcemia (calcium: 5.2 mg/dL), elevated serum level of alkaline phosphatase (2,600 U/L), elevated serum level of intact-parathyroid hormone (238 pg/mL), low 1,25(OH)2D3 level (11.2 pg/mL), and normal 25(OH)D3 level (40.7 ng/mL). "
10.	Calcitriol (Calcijex)FDA LinkGeneric 12/07/2023 - "Although VDDR1A is an infrequently diagnosed pathology in adulthood, in cases of hypocalcaemia with elevated PTH values, determination of the 1,25(OH)2D3 and 25(OH)D3 forms of vitamin D is relevant to reach a correct diagnosis." 06/01/2019 - "The patient exhibited the typical laboratory findings of VDDR1A, including hypocalcemia (calcium: 5.2 mg/dL), elevated serum level of alkaline phosphatase (2,600 U/L), elevated serum level of intact-parathyroid hormone (238 pg/mL), low 1,25(OH)2D3 level (11.2 pg/mL), and normal 25(OH)D3 level (40.7 ng/mL). "

Therapies and Procedures

1.	Therapeutics 02/23/2023 - "We should have a high index of suspicion of VDDR1A in rickets not responding to cholecalciferol therapy."