type 1 tyrosinemia with hypophosphatemic rickets; a case report

Type 1 Tyrosinemia with Hypophosphatemic Rickets; a Case Report

Background: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (FAH) enzyme, the final enzyme in the tyrosine degradation pathway. The disease typically manifests as early onset type in early infancy with acute hepatic crisis with hepatomegaly and bleeding te...

X-linked hypophosphatemic rickets: case report.

INTRODUCTION X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. CASE OUTLINE A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and ...

Dental characteristics of hypophosphatemic rickets. Case report

Hypophosphatemic rickets (HR), also known as refractory, vitamin D resistant rickets, is a hereditary disease linked to the X chromosome. It is characterized by the metabolic disturbance of calcium and phosphate, which causes defective calcifi cation of mineralized structures such as bones and teeth.1,2 It is the most common type of rickets found in developed countries. Its incidence can be cou...

Familial Hypophosphatemic Rickets - A Case Report and Review of Literature

Introduction Familial hypophosphatemic or X-linked hypophosphatemic (XLH) rickets is the most common form of non-nutritional rickets1. The prevalence of XLH rickets yet remain unknown in Bangladesh. It is an Xlinked dominant disorder characterized by renal phosphate wasting with consequent defect of bone mineralization1. Some form of the disease are observed to be transmitted which followed an ...

Hypophosphatemic Rickets in Siblings: A Rare Case Report

Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX), identified in 1995. The X-linked hypophosphatemic (XLH) rickets is a rare hereditary metabolic d...

Hypophosphatemic rickets with hypercalciuria.