Objectives: Hypophosphatasia (HPP) is an inborn error of metabolism with significant morbidity and mortality. Its presentation is non-specific leading to delay or missed diagnosis. Low ALP is a diagnostic test. Unlike high ALP, low level is commonly un-flagged by laboratories as abnormal. A new treatment has proved to be effective in HPP. We aim to study frequency of flagging of low ALP level b...

There is no approved curative treatment of hypophosphatasia and management consists of palliating the symptoms, maintaining calcium balance and applying physical, occupational, dental and orthopedic interventions as necessary [2] . Enzyme replacement using human recombinant bone targeted alkaline phosphatase which has been tried in infants and juveniles provides promise for improving the outcom...

In infantile hypophosphatasia babies appear normal upto the age of 6 months but after this they begin to show a failure in growth. Vomiting and hypotonia may develop. Skeletal malformations like shortened, bowed limbs may be seen. Radiographs show a markedly reduced degree of ossification with preponderance of hypomineralized osteoid. These infants survive and premature shedding of deciduous te...

We present a 44-year-old female patient with recurrent fragility fractures including an intercondylar femoral fracture and with normal planar bone densitometry. Diagnosis of hypophosphatasia was suggested by low volumetric cortical bone mineral density and laboratory findings. DNA sequencing revealed heterozygous mutations in the exons 5, 6 and 9 of the ALPL gene, thus confirming the suspected ...

An electrophoretic fraction of plasma alkaline phosphatase, which migrates more slowly than the main fraction, was present in one fifth of normal subjects, and in some patients with parenchymal liver disease. It was absent in patients with bone disease, uncomplicated biliary obstruction, and hepatic metastases. The electrophoretic and inhibition properties of this slow band were similar to thos...

Malignant infantile osteopetrosis is a rare inherited disease of bone metabolism, in which osteoclast dysfunction and diminished turnover lead to diffuse sclerosis with obliteration the medullary cavities narrowing skull base neural foramina. We report case malignant marrow failure optic atrophy that co-occurred hypophosphatasia, another disease, 6-year-old boy. Key imaging signs these diseases...

Hypophosphatasia is a rare genetic metabolic disorder characterised by defective bone mineralisation secondary to serum and bone alkaline phosphatase deficiency. We report a 46-year-old woman who underwent multiple intramedullary nailings for fractures and deformities of 6 long bones over 13 years.