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An International Peer Reviewed Journal for Pharmaceutical, Medical & Biological Sciences

An Official Publication of Society for Advance Healthcare Research (Reg. No. : 01/01/01/31674/16)

European Journal of Pharmaceutical and Medical Research (EJPMR) has indexed with various reputed international bodies like : Google Scholar , Indian Science Publications , InfoBase Index (In Process) , SOCOLAR, China , Research Bible, Fuchu, Tokyo. JAPAN , International Society for Research activity (ISRA) , Scientific Indexing Services (SIS) , Polish Scholarly Bibliography , Global Impact Factor (GIF) (Under Process) , Universal Impact Factor , International Scientific Indexing (ISI), UAE  , Index Copernicus , CAS (A Division of American Chemical Society) USA (Under Process) , Directory of Open Access Journal (DOAJ, Sweden, in process) , UDLedge Science Citation Index , CiteFactor , Directory Of Research Journal Indexing (DRJI) , Indian citation Index (ICI) , Journal Index (JI, Under Process) , Directory of abstract indexing for Journals (DAIJ) , Open Access Journals (Under Process) , Impact Factor Services For International Journals (IFSIJ) , Cosmos Impact Factor , Jour Informatics (Under Process) , Eurasian Scientific Journal Index (ESJI) , International Innovative Journal Impact Factor (IIJIF) , Science Library Index, Dubai, United Arab Emirates , Pubmed Database [NLM ID: 101669306] (Under Process) , IP Indexing (IP Value 2.40) , Web of Science Group (Under Process) , Directory of Research Journals Indexing , Scholar Article Journal Index (SAJI) , International Scientific Indexing ( ISI ) , Scope Database , Academia , 

 ISSN 2394-3211

Impact Factor: 7.065

 ICV - 79.57



Amal Daghriri, Fadhel Hazazi, Zainanb Saaed, Badi Alenazi, Nasir AM. Aljurayyan and Amer O. AL Ali*


Rickets is a common disorder of bone mineralization, mostly caused by Vitamin D deficiency, but not uncommon could also result from the other genetically inherited disorder disorder of vitamin D activation, action. One of this disorder is Vitamin D dependent rickets type IB (VDDR-1B). It is a very rare condition that has only been reported to affect around 6 families to date. It is an autosomal recessive disorder caused Mutations of CYP2R1 leading to subnormal level and function of 25 hydroxylase enzyme. like other causes of Rickets patients would present clinically with hypotonia, muscle weakness, growth failure, hypocalcemia seizures in early infancy, and radiographic findings of rickets. Here we report a 2 year old Saudi female who present with valgus deformity of the feet and delayed motor development with biochemical, radiological evidence of vitamin D disorder. Since vitamin D level was low she was assumed and treated as being due to deficiency with cholecalciferol plus one alpha for 1 year, but there was no improvement. Then diagnosis was changed to Vitamin D dependent Rickets 1B, and treatment with Calcitriol show great improvement within 3 weeks, Alkaline phosphatase and PTH both drop to normal levels. 3 months after Calcitriol treatment, radiological evidence of the resolution was clear and the patient start to move by then. In this paper, we raise the awareness that Rickets with low vitamin D25 level not always mean deficiency, especially if patient fail to improve with cholecalciferol, and in such case, a rare inherited disorder of Vitamin D activation and action should be looked for.

Keywords: Rickets, CYP2R1, VDDR1B, 25-hydroxylase enzyme.

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Google Scholar Indian Science Publications InfoBase Index (In Process) SOCOLAR, China Research Bible, Fuchu, Tokyo. JAPAN International Society for Research activity (ISRA) Scientific Indexing Services (SIS) Polish Scholarly Bibliography Global Impact Factor (GIF) (Under Process) Universal Impact Factor International Scientific Indexing (ISI), UAE Index Copernicus CAS (A Division of American Chemical Society) USA (Under Process) Directory of Open Access Journal (DOAJ, Sweden, in process) UDLedge Science Citation Index CiteFactor Directory Of Research Journal Indexing (DRJI) Indian citation Index (ICI) Journal Index (JI, Under Process) Directory of abstract indexing for Journals (DAIJ) Open Access Journals (Under Process) Impact Factor Services For International Journals (IFSIJ) Cosmos Impact Factor Jour Informatics (Under Process) Eurasian Scientific Journal Index (ESJI) International Innovative Journal Impact Factor (IIJIF) Science Library Index, Dubai, United Arab Emirates Pubmed Database [NLM ID: 101669306] (Under Process) IP Indexing (IP Value 2.40) Web of Science Group (Under Process) Directory of Research Journals Indexing Scholar Article Journal Index (SAJI) International Scientific Indexing ( ISI ) Scope Database Academia