Congenital Lipase Disorders

"Congenital lipase disorder" is the designation given to any of a family of genetic mutations that negatively impact the production, formation, number, or efficacy of the lipase enzymes upon which Stenza metabolism relies. These mutations are very often deleterious, and therefore they are exceptionally rare within the Stenza population at large, but small numbers of cases have been cropping up well into the present day. Unlike other genetic conditions, when a lipase disorder is detected it must be treated immediately for the well-being of the patient.

Transmission & Vectors

Lipase disorders are the result of a mutation in one or more of the genes connected with the production of lipases, but can also impact the protein's shape, coenzymes, or delete the gene altogether. As often as not, these mutations are random, although some studies suggest there is a link between adults who had developed a lipase condition as children and the risk of such a condition in their pups.

Symptoms

Lipase disorders result in a lot of strange eating behaviors in pups, often related to Anomalous Consumption, but focusing on Medical Gel or other products of the Ice Flats Substance, as well as eating almost exclusively suet and blubber. This often results in malnutrition, detected through its negative effects on night vision, photosensitivity, dental health, claw health, skin health, and general well-being. An affected pup may become very lethargic, may vomit or struggle to digest food or pass waste, or show other severe symptoms depending on the specific disorder.

Treatment

As pups are almost always monitored by the nearest adults, when symptoms are detected the adult rushes the pup to the nearest Medical Doctor in order to perform tests. Almost always, a lipase disorder needs to be treated with genetic therapy, which the Stenza have made an art form thanks to their study of DNA Bombs. Usually it is a simple cut and replace (or simply add) operation, but protein-specific disorders (including some prions) require lifelong monitoring and a supplemented diet.

Prognosis

Thanks to modern medicine, a Stenza pup can recover from a lipase disorder with little trouble nine times out of ten (the other one time out of ten being a type of protein-disorder or a comorbid condition which requires the patient to be monitored for the rest of their lives). When genetic editing can solve the issue, the patient is often expected to live a full life and be unable to pass the condition on to offspring (although this has happened, and these are considered scientifically interesting cases, if a bit perplexing from a medical perspective). When genetic editing cannot solve the problem, odds of passing the condition on go up slightly, and this is thought to be the source of any traces of heredity noted in the literature. However, a series of dietary supplements and genetic screenings on gestating pups dramatically improves both the quality of life of the patient, and the ability to detect the condition in their progeny and make needed corrections.

Sequela

In modern times, even though almost all patients can be treated (or have the condition managed), follow-up studies show that individuals who were affected by a lipase disorder in puphood or childhood seem to remember, even vaguely, how it feels to suffer from the disease. This has often affected relationships with food, and a large fraction of people who have been treated for lipase disorders become Protectors of Life due to their experience.

Prevention

Genetic screenings are available for expecting mothers, and encouraged in cases where women know of a clan history of certain conditions. Doctors can determine if any pups are at risk and tag them for future monitoring (making locating them much easier if and when they develop symptoms). For severe enough cases genetic correction can be made in utero, but it is typically saved for after Ice Flats emergence for fear of tipping the delicate (and still poorly understood) balance of hormonal and chemical interactions between mother and infant, and later infant and Ice Flats Substance.

History

There is evidence to suggest that congenital lipase disorders of some form or fashion have existed even in Proto-Stenza populations, as suggested by studies done on the remains of Proto-Stenza pups (in fact, in some cases this is thought to be the cause of death). Modern Stenza are known to have struggled treating the disease for generations, relying on combinations of 'Alashaia fruit, the Ice Flats Substance, and differing quantities of meat and fat (sometimes including organ meat) in attempts to ameliorate these conditions. Many worked out early on that cases varied, and individual sufferers therefore had different dietary needs, but these treatments were not always successful.
The sequencing of the Stenza genome, while it did not immediately open the way toward medicating these conditions, provided a breakthrough for understanding them. And with understanding came immediate attempts to correct the issue, administering manufactured lipases to patients while work began almost at once on editing the genes involved. Initial genetic corrections were incredibly hit or miss, so doctors relied on manufactured proteins and specialized diets until more reliable gene editing techniques were found. When they were, it was a revelation for genetic disorders such as the lipase conditions. When the genetic side of most of these disorders could reliably be fixed and removed from the gametic line, it drastically improved the quality of life of patients. Now it is standard practice to determine if a specific lipase disorder can be corrected by genetic means, and then do so, or adopt a different strategy, depending on the results.

Cultural Reception

Congenital lipase disorders are, and have always been, treated with at least some degree of fear (or at the very least, caution). Historically, some particularly severe lipase disorders have killed, sometimes in noticeable numbers in a clan (up to wiping out most or all of a litter in some cases). Shades of these cultural memories turn up when a pup showing symptoms of malnourishment is rushed to the nearest doctor, causing something of a buzz in their wake. This is likely because lipase disorders have not been completely eradicated from the population.

Type

Genetic

Origin

Mutated

Cycle

Chronic, Congenital

Rarity

Extremely Rare

Affected Species

• The Stenza