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Hydroxyprolinuria (HPU) is an extremely rare genetic disorder characterized by the excessive excretion of hydroxyproline in the urine. It is caused by a deficiency of lysyl hydroxylase, an enzyme responsible for metabolizing proline and hydroxyproline – two amino acids essential for collagen synthesis. This disorder has been estimated to affect about 1:1,000,000 individuals worldwide (Lambert et al., 2017).

The most common clinical presentation associated with HPU includes recurrent episodes of joint pain and inflammation as well as difficulty walking due to stiffness in limbs. Other symptoms can include facial deformities such as cleft lip or palate; scoliosis; chest wall deformities; skeletal abnormalities; cognitive impairments and muscular dystrophy (Austin et al., 2016).

Diagnosis of HPU involves the collection of a 24-hour urinary sample which will be tested for elevated levels of hydroxyproline. A skin biopsy may also be taken to examine collagen fibers under a microscope while genetic testing can be used to identify mutations related to this condition.

Treatment typically involves providing adequate nutrition along with physical therapy and medications in order to manage any accompanying symptoms that may occur due to this disorder such as pain or inflammation. Prognosis tends to vary from one individual to another but generally speaking many affected people are able lead normal lives without major complications arising from it.( Austin et al., 2016).