Home

Vitamin d dependent rickets type 2a

VDDR2A is a rare autosomal recessive disorder caused by mutation in the Vitamin D receptor gene, leading to end-organ resistance to 1,25(OH) 2 Vitamin D 3. It clinically represents growth retardation presenting in the 1 st year of life and frequently associated with alopecia totalis, which differentiates it from VDDR Type 1. Due to target organ resistance, its response to Vitamin D is poor vitamin D-dependent rickets type 2A (DOID:0080884) Alliance: disease page Alt IDs: OMIM:277440, ORDO:93160 Definition: A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q Objective: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor gene ( VDR ), leading to end-organ resistance to 1,25-dihydroxyvitamin D 3 (1,25[OH] 2 D 3 )

Familial Vitamin D-dependent rickets Type 2A: A report of

Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called. Case history: Vitamin D-dependent rickets type 2 (VDDR2) is an autosomal recessive condition caused by resistance to 1,25(OH) 2 D 3, either through vitamin D receptor (VDR) mutations (type A) or abnormal expression of interfering proteins (type B), resulting in hypocalcaemia despite elevated plasma 1,25(OH) 2 D 3 and parathyroid hormone concentrations. We report a proband, born to Caucasian non-consanguineous parents, who presented with rickets and alopecia aged 2 years vitamin D-dependent rickets, type 2A A disorder (OMIM:277440) of vitamin D metabolism resulting in severe rickets, hypocalcaemia and secondary hyperparathyroidism. Most patients also have total alopecia. Molecular pathology Defects of VDR, which encodes the nuclear hormone receptor for vitamin D3, cause vitamin D-dependent rickets type 2A

Vitamin D-Dependent Rickets Type 2a (VDDR2a) VDDR2a (OMIM 277440) is due to biallelic loss-of-function mutations in the gene encoding the vitamin D receptor (VDR; 601769) on chromosome 12q13.11, and therefore represents a bona fide form of tissue resistance to vitamin D Receptor defect rickets (type II vitamin D-dependent rickets) Receptor defect rickets (hereditary 1,25-dihydroxyvitamin D-resistant rickets [HVDRR]) results from a recessively inherited ab... mor D receptor called Vitamin D-Resistant Rickets or VDDR type 2A is an autosomal recessive disorder. Infants with this disease have clinical and biochemical findings similar to those who lack 25OHD-1alpha hydroxylase activity additionally have alopecia because vitamin D is essential of growth of epithelial nuclei an

Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3 In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. 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 Mutations in the vitamin D receptor (VDR) gene cause vitamin D-dependent rickets, type 2A (VDDR2A, OMIM 277440) associated with true resistance to vitamin D action. This condition is discussed in detail in Chapter 72 where it is referred to as hereditary vitamin D-resistant rickets Vitamin D-dependent rickets type IIA and APL/AUC are considered to be different genetic diseases, and both APL and AUC result from hairless gene mutations. The reasons for the variable clinical expressions remain elusive but may involve the effects of modifier traits Title: Vitamin D-dependent rickets, type 2 Definition: Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets

VDDR1B (600081) is a form of rickets due to mutation in the gene encoding a vitamin D 25-hydroxylase (CYP2R1; 608713), another enzyme necessary for the synthesis of active vitamin D. Vitamin D-dependent rickets type 2A (VDDR2A; 277440) is caused by end-organ unresponsiveness of active vitamin D due to mutation in the gene encoding the vitamin D receptor (VDR; 601769) vitamin D-dependent rickets, type II an autosomal recessive disorder similar to type I but with elevated serum concentrations of 1,25-dihydroxyvitamin D. The disorder cannot be overcome by high levels of vitamin D or its metabolites and is believed to be due to defective receptor binding, absence of the receptors, or post-receptor defects Vitamin D-dependent rickets type 2A (VDDR2A, MIM 277440), also called hereditary vitamin D-resistant rickets, is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor gene (VDR) . This defect leads to end-organ resistance to its ligand, 1,25(OH) 2 D 3, and an increase in circulating 1,25(OH) 2 D 3

Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A) Table 1. Histologic and Immunohistochemical Histologic Findings in 6 Cases of Vitamin D-Dependent Rickets Type II Alopecia Patient/ Sex/Age, y Mutation Age at Biopsy Histologic Findings* Immunohistochemical Findings* CK10 CK17 CK19 CD34 1/F/15 Y292X 15 y Infundibula devoid of hair shafts. Lower two thirds of hair follicle missing rickets or rachitis (rəkī`tĭs), bone disease caused by a deficiency of vitamin D or calcium.Essential in regulating calcium and phosphorus absorption by the body, vitamin D can be formed in the skin by ultraviolet rays contained in sunlight; it can also be consumed in such foods as fish oils, eggs, and butter

Levels of 1,25 (OH) 2 vitamin D may be normal but inadequately low for the levels of calcium, phosphorus, and parathyroid hormone. These patients develop rickets despite receiving vitamin D at the.. Vitamin D Deficiency and Excess Rickets Bone consists of a protein matrix called osteoid and a mineral phase, principallycomposed of calcium and phosphate, mostly in the form of hydroxyapatite .Osteomalacia occurs with inadequate mineralization of bone osteoid in childrenand adults. Rickets is a disease of growing bone caused by unmineralized matrixat the growth plates in [ Vitamin D-dependent rickets type II (VDDR II) is an autosomal recessive disorder resulting from the defective response of vitamin D receptors (VDR) in the target tissues to the active hormonal form of vitamin D. Vitamin D is important for enhancing the absorption of calcium from the small intestine and for normal bone development

vitamin D-dependent rickets type 2A Disease Ontology

Synonyms for vitamin D-dependent rickets, type II in Free Thesaurus. Antonyms for vitamin D-dependent rickets, type II. 1 synonym for rickets: rachitis. What are synonyms for vitamin D-dependent rickets, type II Vitamin D dependent rickets Type II is a rare autosomal recessive disorder. The disorder is characterized by end organ hyporesponsiveness to vitamin D. Common presentation of the disorder is total body alopecia and onset of rickets during the second half of the first year of life vitamin D-dependent rickets type 2A. IDs. Click on a disease name to see all genes associated with that disease. Mutations/Alleles. 3 with disease annotations. References. 6 with disease annotations. Mutations, Alleles, and Phenotypes less. Phenotype Summary 149 phenotypes from 10.

Vitamin D-dependent rickets. Mutations in the VDR gene cause vitamin D-dependent rickets type 2A (VDDR2A), also known as hereditary vitamin D-resistant rickets (HVDRR). This disorder of bone development is characterized by low levels of calcium (hypocalcemia) and phosphate (hypophosphatemia) in the blood, which lead to soft, weak bones (rickets) that are prone to fracture OMIM®: 57 Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets. VDDR2B (600785) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A. Objective: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor gene (VDR), leading to end-organ resistance to 1,25-dihydroxyvitamin D3 (1,25[OH]2D3). The objective of this study was to investigate VDR mutations in 11 patients from 8 Turkish-Arab families.Methods: All coding exons and intron-exon boundaries of. A cellular defect in hereditary vitamin-D­dependent rickets type II: Defective nuclear uptake of 1,25-dihydroxyvitamin D in cultured skin fibroblasts. N Engl J Med 1981;304 (26):1588-91. 6. Takeda E, Kuroda Y, Saijo T, et al. Rapid diagnosis of vitamin D-dependent rickets type II by use of phytohemagglutinin-stimulated lymphocytes

Novel Vdr Mutations in Patients With Vitamin D-dependent

Type I: vitamin D-dependent rickets type 1 is secondary to a defect in the renall-.alpha-hydroxylase, responsible for the synthesis of 1,25-dihydroxyvitamin D3 from 25-hydroxyvitamin D3 from 25. (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form.The signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. Vitamin D-dependent. Define vitamin D-dependent rickets, type II. vitamin D-dependent rickets, type II synonyms, vitamin D-dependent rickets, type II pronunciation, vitamin D-dependent rickets, type II translation, English dictionary definition of vitamin D-dependent rickets, type II. n. vitamin D-dependent rickets, type 2A with or without alopecia.

Vitamin D-dependent rickets: MedlinePlus Genetic

Mutation in the VDR gene coding for the vitamin D receptor can lead to vitamin D-dependent rickets type 2A (VDDR2A, MIM277440). In contrast, there are no enough data about the hepatic CYP enzymes that are involved in 25-hydroxylation as a cause of genetic vitamin D deficiency (5, 6) RA, Bircan I, Akçurin S, Meyer B, Shi Y. Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A. Clin Endocrinol (Oxf). 2012 Sep;77(3):363-9. doi: 10.1111/j.1365-2265.2012.04394.x. Citation on PubMed Feldman D, J Malloy P. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets. Bonekey Rep. 201 The coexistence of vitamin-D-dependent-rickets type II with alopecia (VDDR IIA) and different forms of psychosis in the same inbred family has provided us with an opportunity to investigate the.

VDDR - Vitamin D-Dependent Rickets. Looking for abbreviations of VDDR? It is Vitamin D-Dependent Rickets. Vitamin D-Dependent Rickets listed as VDDR. Vitamin D-Dependent Rickets - How is Vitamin D-Dependent Rickets abbreviated? vitamin D-dependent rickets, type 2A with or without alopecia; vitamin D-resistant rickets; vitamin D-resistant. Vitamin D Resistant Rickets Type 1. Familial Vitamin D Dependent Rickets Type 2a A Report Of. vitamin d resistant rickets type 1 is free HD wallpaper was upload by Admin. Download this image for free in HD resolution the choice download button below. If you do not find the exact resolution you are looking for, then go for a native or higher hydroxyvitamin D (25OHD) in vitamin D-dependent rickets type IB (VDDRIB) or failure to synthesize 1,25-dihydroxyvitamin D (1,25(OH) 2D) in VDDRIA and end-organ resistance to its active metabolite 1,25(OH) 2Dasin VDDR2A and 2B (Table 1). In calcipenic rickets, a fall in Vitamin D-dependent rickets type 2A (VDDR2A

Vitamin D‐dependent rickets are caused by defects of vitamin D metabolism. There are 4 forms described in literature that are distinguished by their genetic causes: type 1A (vitamin D‐dependent rickets type IA), type 1B (vitamin D‐dependent rickets type IB) and type 2A (vitamin D‐dependent rickets type 2A), type 2B (vitamin D. Vitamin D-dependent rickets type I (VDDRI) represents an autosomal recessive hereditary defect in vitamin D metabolism. Patients with VDDRI have mutations of chromosome 12 that affect the gene for the enzyme 1-alpha-hydroxylase, resulting in decreased levels of 1,25(OH)(2) vitamin D. Clinical features include growth failure, hypotonia, weakness, rachitic rosary, convulsions, tetany, open. Vitamin D-dependent rickets type 2A (VDDR2A) Xanthinuria type I; Clinical description To view the complete clinical description of this panel, click here. Inheritance Genes on the Nephrolithiasis panel can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern.. Vitamin D-dependent rickets are caused by defects of vitamin D metabolism. There are 4 forms described in literature that are distinguished by their genetic causes: type 1A (vitamin D-dependent rickets type IA), type 1B (vitamin D-dependent rickets type IB) and type 2A (vitamin D-dependent rickets type 2A), type 2B (vitamin D-dependent rickets.

A case of vitamin D-dependent rickets type 2A (VDDR2A

Vitamin D-dependent rickets type IA (VDDR-IA) is caused by biallelic mutations in CYP27B1. Data regarding genotype-phenotype correlation in VDDR-IA are scarce. Here, we aimed to investigate clinical/genotypic features and long-term follow-up of 13 new cases with VDDR-IA and genotype-phenotype correlation of reported cases in the literature. Thirteen patients with VDDR-IA were evaluated. Synonyms for vitamin D-dependent rickets, type I in Free Thesaurus. Antonyms for vitamin D-dependent rickets, type I. 1 synonym for rickets: rachitis. What are synonyms for vitamin D-dependent rickets, type I Rickets is a disorder that results from decreased mineralization of the growth plate in the growing infant, child and adolescent. Rickets can occur as heritable disorders with multiple genes mutations in different etiologies of types of rickets. There are different ways of classifying types of rickets, the most commonly used is to be classified as calciopenic and phosphopenic rickets

Vitamin D-dependent rickets type 1A (VDDR-IA) is a rare autosomal recessive disorder caused by mutations in the CYP27B1 gene, which encodes 25-hydroxyvitamin D-1α-hydroxylase . It is characterized clinically by hypotonia, growth retardation, muscle weakness, hypocalcemic seizures in early infancy, and radiographic features of rickets VDR is related to DNA-binding transcription factor activity and steroid hormone receptor activity. NR1I2 is an important paralog of VDR gene. VDR is associated with some diseases, including Vitamin D-Dependent Rickets, Type 2A and Rickets

Vitamin D-dependent rickets, type 2A definition of

Vitamin D-dependent rickets type 1B (VDDR1B; MIM 600081) is a form of rickets due to mutation in CYP2R1 gene encoding 25-hydroxylase. Vitamin D-dependent rickets type 2A (VDDR2A; 277440) is caused by end-organ unresponsiveness of active vitamin D due to mutatio Rickets associated with 1α-hydroxylase deficiency is also known as vitamin D-dependent rickets type 1, hereditary pseudo-vitamin D deficiency rickets type 1 or vitamin D dependency 56,57. In. Hypocalcemic Vitamin D-resistant Rickets Is also known as vdrr ii, vddr ii, vitamin d-dependent rickets type ii, hvdrr, hereditary vitamin d-resistant rickets, vitamin d-resistant rickets type ii. Researches and researchers Currently, we don't have any information about doctors, researches or researchers related to this disease The gene encoding P450c1α was localized to chromosome 12, where the 1α-hydroxylase deficiency syndrome, vitamin D-dependent rickets type 1 (VDDR-1), has been localized. Primary cultures of human adult and neonatal keratinocytes exhibit abundant 1α-hydroxylase activity, whereas those from a patient with VDDR-1 lacked detectable activity

Kougia V, Seitanidou S, Kampouras A et al. Vitamin D dependent rickets type 1 (VDDR-1): two years after discontinuation of treatment. F1000Posters 2013, 4:677 (poster The existence of rickets in areas with abundant sunlight has led to the identification of genetic forms of vitamin D-dependent rickets (VDDRs). Type 1 VDDRs are caused by defects in vitamin D activation, owing to mutations in the genes encoding either the renal 1-α hydroxylase (CYP27B1: VDDR-1A) or the hepatic 25-hydroxylase (CYP2R1: VDDR-1B. Independent segregation of psychosis in a family with vitamin D dependent rickets type IIA. Prog. Neuropsychopharmacology Biol. Psychiatry, 28: 255-266 (2004) 8. Özer S , Arsava M, Ertuğrul A, Demir B, Obsessive compulsive symptoms associated with quetiapine treatment in a schizophrenic patient: A case report Plays a central role in calcium homeostasis. Defects in VDR are the cause of rickets vitamin D- dependent type 2A (VDDR2A). A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets. Belongs to the nuclear hormone receptor family

The role of the vitamin D receptor (VDR) in the hair cycle was first suggested by the observation of alopecia in patients with type IIA vitamin D dependent rickets (VDDR IIA) . VDDR IIA is an autosomal recessive disorder due to a defect in the VDR and is characterized by hypocalcemia, hypophosphatemia, hyperparathyroidism, rickets, osteomalacia. [Learn More in MedlinePlus] Vitamin D-dependent rickets Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A) Vitamin D-dependent rickets is rare in animals and humans. Several types of this condition are associated with genetic variants related to vitamin D metabolism. This is the first report of type 1B vitamin D-dependent rickets in a cat. Here, we describe the case of a 3-month-old female domestic short-haired cat previously fed on commercial kitten food that presented at our clinic with seizures. In other species: domestic cat Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 277440 (trait), 601769 (gene) Mendelian trait/disorder: yes Mode of inheritance: Autosomal Recessive Considered a defect: yes Key variant known: yes Year key variant first reported: 2009 Cross-species summary: Vitamin D dependent rickets type 2A (VDDR-2A), also called hereditary vitamin-D resistant. Atrichia with papular lesions and vitamin D-dependent rickets type IIA. Definition. Extrem seltener, diffuser Haarmangel ( Atrichie), oft mit Fehlen der Nägel. Ätiopathogenese. Mutationen des CYP27B1 Gens (Genlokus: 12q14)

Diagnosis and Management of Vitamin D Dependent Ricket

  1. D metabolism that can cause rickets have been described. The first one involves 1[alpha]-hydroxylase deficiency, which is also described as vita
  2. D-dependent rickets exist: VDDR-1 caused by mutations in the genes encoding either the renal 1-α hydroxylase (CYP27B1: VDDR-1A) or the hepatic 25-hydroxylase (CYP2R1: VDDR-1B) and VDDR-2 caused by mutations in the vita
  3. istration of Vit D3 (because can't convert D3 to 1,25-D3). Need to give 1,25 D3. what is type I Rickets (vita
  4. D. It is usually hereditary. Symptoms are bone pain, fractures, and growth abnormalities. Diagnosis is by serum phosphate, alkaline phosphatase, and 1,25-dihydroxyvita
  5. D-resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vita

What is receptor defect rickets (type II vitamin D

There is some newer preliminary evidence supporting the use of Vitamin D-3 (cholecalciferol) over Vitamin D-2 (ergocalciferol). An application of integrative medicine: nutritional and other therapies can assist with co-occurring substance use and eating disorder Prie D, Huart V, Bakouh N, et al. Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med . 2002 Sep 26.

  1. D (1,25[OH] 2 D)-resistant rickets (HVDRR) (OMIM #277440), also known as vita
  2. D-dependent rickets. Mutations in the VDR gene cause vita
  3. D-dependent rickets type II is a rare autosomal recessive disorder. The patients exhibit characteristic clinical features as well as numerous dental manifestations such as hypoplastic teeth, missing teeth, enlarged pulp chambers, and recurrent spontaneous abscesses. The case presented in this article is of vita
  4. D-dependent rickets type IIA is a disorder in bone formation caused by a defect in the VDR gene. Interestingly most of the patients with this disorder also had alopecia. However, the molecular mechanisms by which vita

Vitamin D-dependent Rickets, Type 2a; Vddr2a Mendelian

Defects in VDR are the cause of rickets vitamin D-dependent type 2A (VDDR2A) [MIM:277440]. A disorder of vitamin D metabolism resulting in severe rickets, hypocalcemia and secondary hyperparathyroidism. Most patients have total alopecia in addition to rickets Familial Vitamin D Dependent Rickets Type 2a A Report Of Growth In Familial Hypophosphatemic Vitamin D Resistant Solved Vitamin D Resistant Rickets Is An X Linked Dominan Rickets Not A Disease Of The Past American Family Physician Vitamin D Resistant Rickets. other hand, unlike what is seen in patients with rickets, de-ficient or dependent on vitamin D, the presentation of costal rosary or upper extremity deformities is rare (Table 2).5 Also, patients with severe forms of XLH may pres-ent with maxillofacial deformities, with delay in dental development and fractures, abscesses or loss of teeth Changes in bone metabolic parameters following oral calcium supplementation in an adult patient with vitamin D-dependent rickets type 2A. Endocrine Journal, Vol. 64, No. 6. Effects of dietary iron intake and chronic kidney disease on fibroblast growth factor 23 metabolism in wild-type and hepcidin knockout mice Context: Vitamin D-dependent rickets type 1A (VDDR-IA) is a rare autosomal recessively inherited disorder due to loss-of-function mutations in the CYP27B1 gene. CYP27B1 encodes an enzyme of 25-hydroxyvitamin D-1α-hydroxylase for converting inactive 25-OHD to biologically active 1,25-(OH)2D

Video: Vitamin D Hydroxylation-Deficient Rickets, Type 1A

The Alopecias Associated With Vitamin D-Dependent Rickets

  1. D-dependent rickets type II with alopecia. NCBI MedGen. 6.5 Gene-Disease Associations. Help. New Window. 6.5.1 CTD Gene-Disease Associations. Help. New Window
  2. D (1,25-[OH]2 D3), which results in vita
  3. D dependent rickets type 2A (VDDR-2A), also called hereditary vita
  4. ant hypophosphatemic rickets: PHEX: Vita

C0342646[conceptid] - MedGen Resul

Telangiectasia, Hereditary Hemorrhagic, Type 1; Waardenburg Syndrome, Type 4A; Waardenburg Syndrome, Type 1/Type3; Short Stature, Idiopathic Familial/Leri Weill Dyschondrosteosis; Rickets, Vitamin D Dependent , Type I; Rickets, Vitamin D Resistant, Type IIA; Pfeiffer Syndrome; Osteopetrosis, Autosomal Recessive 1 (Albers - Schonberg Disease type 2a. RET . 171400 * Multiple Endocrine Neoplasia. type 4. CDKN1B. 610755 * Malabsorption -Vitamin D dependent rickets. type 1 VDDR1. CYP27B1: 264700 - Vitamin D dependent rickets . type 2 VDDR2. Vitamin D receptor : 277440 -Other causes of hypocalcemia.

Vitamin D Hydroxylation-deficient Rickets, Type 1a; Vddr1

Vitamin D Resistant Rickets Type 1 - VitaminWallsFamilial Vitamin D-dependent rickets Type 2A: A report ofFamilial Vitamin D Dependent Rickets Type 2a A Report OfPdf Hereditary 1 25 Dihydroxyvitamin D Resistant Rickets

Vitamin D-dependent type 2B (VDDR2B) is an unusual form of Vitamin D-dependent rickets due to abnormal expression of a hormone response element binding protein that interferes with the normal function of the VDR, without mutations in the VDR coding region Vitamin D-dependent rickets are caused by defects of vitamin D metabolism. There are four forms described in literature that are distinguished by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A), type 2B (VDDR2B). A detailed family history in combination with a physical examination, biochemistry and X-ray imaging. Pseudovitamin D deficiency rickets (or type I vitamin D dependent rickets) is an autosomal recessive disorder that may be due to impaired activity of 25-hydroxyvitamin D 1á- hydroxylase, the enzyme responsible for con- version of 25-hydroxyvitamin D (25(OH)D) to 1,25-dihydroxyvitamin D (1,25(OH)2D).1 In this report we present the data of three.