Do you feel sleepy or fussy? Do you suffer from seizures or breathing problem? And your body temperature is mostly low?
You should get it checked, as this can be related to any disease or disorder, which can be either fatal or superficial. You might be afflicted with Urea cycle disorder. Delaying it would not bring you answers.

Urea cycle disorder

One of the similar disorder, which have these type of symptoms are Urea Cycle Disorder (UCD). It is genetically passed on from generations; they are inborn errors of metabolism, which can show its effect in adulthood. It generally goes undiagnosed in many cases due to unreliable newborn screening. It represents a considerable cause of brain damage and death among newborns and infants.

The deficiency of one of the enzymes of the urea cycle, responsible for removing ammonia from the bloodstream, can lead to hereditary metabolic disorders. During the initial years, infants may appear healthy but may rapidly develop cerebral edema and may display signs and symptoms like lethargy, anorexia, hyper- or hypoventilation, which may also lead to coma.

Urea cycle disorder prevalence

UCDs affect about 1 in 30,000–35,000 newborns. As per the estimates, almost 20% of cases of sudden infant deaths are attributed to UCD. In 2017, the total UCD prevalent population was recorded at 20,082 in the 7MM. The figures also indicated that the total prevalent Urea cycle disorder diagnosis was more in adults as compared to children.

Urea cycle disorders have also been segregated based on the type of disease onset, neonatal-onset, late-onset, and asymptomatic cases, wherein late disease onset cases overpowered the United States market by 6377 cases in 2017. The OTC deficiency was also recorded the most prevalent in the United States by registering 1178 cases in a population of age less than 18 years, whereas in case of adult age group the Urea cycle disorder prevalent cases of OTC deficiency was 3964. Among European countries, the United Kingdom held the highest position with a record of 1503 cases followed by Germany with 808 cases in 2017.

Urea cycle disorders afflict the brain and the nervous system of the patient. The severity and specificity of urea cycle disorders are based on the seriousness of the genetic defect and the specific enzyme involved.

Urea cycle disorder Therapy Market

The Urea Cycle Disorder treatment of patients requires a highly-synchronized squad of specialists proficient in caring for patients with inborn errors of metabolism. The treatment of inborn metabolic disorders is multifaceted and best steered by specialists at a centre equipped to correct the inborn errors. For any paediatrician to diagnose and treat UCD, recognition, stabilization, and rapid transport is the surest way to achieve an optimal outcome. 

Pharma companies working to advance Urea cycle disorder therapy market

Pharma companies like Aeglea Therapeutics which is developing Pegzilarginase- an enhanced human arginase, Promethera Biosciences‘ HepaStem, ERYTECH Pharma‘s Eryminase and Ultragenyx Pharmaceuticals is developing a gene therapy DTX 301 for different conditions that are collectively labelled as Urea cycle disorder, have the potential to create a significant positive shift in the Urea Cycle Disorder market size. In 2017, the UCD was estimated at around USD 788.55 million in 7MM, which may experience an increase in the coming years. As per DelveInsight’s analysts, the Urea cycle disorder market size is considerably dominated by the United States, followed by the United Kingdom with a recorded market share of USD 99.56 million. The UCD market is in dire need of effective therapies which can change the course of Urea cycle disorder treatment landscape shortly. An extensive R&D, development of novel therapeutic agents, an extension of currently skimmed pipeline, and with more companies turning up to advance the therapy market will steer the Urea cycle disorder market in the right direction. 

Shockingly, ignorance and misdiagnosis have taken the lives of many, be it infants or adults. Therefore, a simple, inexpensive, and routine blood test should be made available to masses that would prevent the deaths due to lack of awareness.