Metabolic diseases may be inherited or acquired, the latter case being more common and important. Metabolic diseases are clinically important because they affect energy production or damage tissues critical for survival.
Congenital erythropoietic porphyria (CEP) is a rare, hereditary disease of cattle, pigs, cats, and people that results from a significant yet variable decrease in uroporphyrinogen III synthase (URO-synthase) activity. URO-synthetase is the fourth enzyme in the heme biosynthesis pathway, and it normally converts hydroxymethylbilane to uroporphyrinogen III. With decreased URO-synthase activity, hydroxymethylbilane accumulates primarily in erythrons and is nonenzymatically converted to uroporphyrinogen I. Further decarboxylation of uroporphyrinogen I leads to the formation of various porphyrinogen I isomers, with coproporphyrinogen I occurring as the final product. Coproporphyrinogen I cannot be further metabolized to heme and is thus nonphysiologic.
Hypocalcemic tetany in horses is an uncommon condition associated with acute depletion of serum ionized calcium and sometimes with alterations in serum concentrations of magnesium and phosphate. It occurs after prolonged physical exertion or transport (transport tetany) and in lactating mares (lactation tetany). Signs are variable and relate to neuromuscular hyperirritability.
Magnesium (Mg) homeostasis is not under direct hormonal control but is mainly determined by absorption from the GI tract; excretion by the kidneys; and the varying requirements of the body for pregnancy, lactation, and growth. Magnesium is the second most common intracellular cation after potassium, with 50%–60% of total body Mg distributed in bone, 40%–50% in soft tissues, and 300 enzymatic reactions involving ATP, including glycolysis and oxidative phosphorylation. It is also important in the function of the Na+/K+-ATPase pump, membrane stabilization, nerve conduction, ion transportation, and calcium channel activity. Magnesium also regulates the movement of calcium into smooth muscle cells, giving it a pivotal role in cardiac contractile strength and peripheral vascular tone. Low ionized Mg concentrations accelerate the transmission of nerve impulses. Clinical manifestations of severe hypomagnesemia include muscle weakness, muscle fasciculations, ventricular arrhythmias, seizures, ataxia, and coma.
Potassium homeostasis is mainly determined by the balance between absorption of potassium from the GI tract and subsequent excretion by the kidneys (all animals) and saliva (in adult ruminants). Transport of potassium is passive in the small intestine and active in the colon under the influence of aldosterone. The most important hormone affecting renal and salivary potassium excretion is aldosterone, which is released from the zona glomerulosa of the adrenal gland in response to hyperkalemia and other factors. One of aldosterone’s primary actions is to enhance the secretion of potassium ions in the distal renal tubules and collecting ducts.
Equine metabolic syndrome (EMS) is a characteristic collection of clinical signs and clinicopathologic changes in equids that places them at high risk for developing laminitis, which is the most significant problem that results from EMS. Equids with EMS are highly prone to developing painful episodes when allowed on pasture or given high-carbohydrate feeds. Insulin dysregulation, the abnormal insulin response to oral or IV glucose and other hexose sugars, is the hallmark of EMS, and maintaining normal insulin concentrations in response to meals is the primary goal when treating a horse with EMS. Although most affected horses are obese, insulin dysregulation can occur in thinner animals as well. Often, the thin horse with EMS retains some degree of abnormal regional adiposity with a relatively increased amount of fat in the neck.
Muscular fatigue during exercise is the decline in the ability of a muscle to generate force of contraction, resulting in the inability of the animal to continue to perform at the same level of intensity. Alterations in cardiovascular parameters, serum electrolytes, and muscle tissue may be observed if physiologic compensatory mechanisms are exhausted. Treatment involves rest, rehydration, restoration of normal serum electrolyte concentrations, and cooling strategies.
In both veterinary and human patients, fever may indicate infectious, inflammatory, immune-mediated, or neoplastic disease. In most cases, the history and physical examination reveal the cause of the fever, or the fever resolves spontaneously or in response to antibiotic therapy. However, in a small percentage of patients, the cause of fever is not readily apparent, and the problem becomes persistent or recurrent. These patients are said to have fever of unknown origin (FUO).
Fatty liver disease is a disorder of highly productive dairy cows resulting from an excessive negative energy balance at the onset of lactation. Mobilization of large amounts of body fat reserves in response to insufficient dietary energy supply results in a transfer of fatty acids to the liver. Excessive amounts are deposited in the hepatocyte as trigylcerides and can result in disturbed liver function and liver cell injury. The condition is associated with pronounced ketosis, feed intake depression, and decreased productivity; severe cases lead to liver failure and a fatal outcome. Diagnosis can be made directly by determining the liver fat content but is most commonly done indirectly by assessing severity and duration of negative energy balance. Treatment is similar to the treatment of ketosis, with supportive care.
Ketosis is an elevated concentration of ketone bodies (acetone, acetoacetate, beta-hydroxybutyrate) in all body fluids. Key clinical signs of ketosis are vague but include anorexia, decreased milk production, noticeable loss of body condition, firm dry feces, and, occasionally, neurologic signs (nervous ketosis); however, ketosis may be subclinical or go unrecognized. Cows with ketosis can be identified via routine testing using appropriate cowside blood, milk, or urine tests. The most efficacious treatment for ketosis is oral drenching of propylene glycol.
Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disorder of skeletal muscle calcium regulation. Triggered by exposure to certain drugs or stressors, clinical signs include sudden and dramatic rise in body temperature, muscle fasciculation, muscle rigidity, tachypnea, tachycardia, arrhythmia, myoglobinuria, metabolic acidosis, renal failure, and death. An in vitro contracture test or DNA analysis are used for diagnosis; minimizing stress and appropriate anesthetic selection are key for prevention. Dantrolene is the treatment of choice, with other therapy being symptomatic and supportive.
Transport tetany is more appropriately designated a "management syndrome" versus a specific disease, with multiple management risk factors leading to tetany due to hypocalcemia, hypomagnesemia, or both. Transport tetany typically occurs in cows and ewes in late pregnancy, after the stress of prolonged transport. It also occurs in lambs transported to feedlots and in cattle and sheep transported to slaughter. Crowded, hot, poorly ventilated transport vehicles (railroad cars or trailers) with minimal or no access to feed or water seem to predispose animals to the condition; however, prolonged travel by foot is also a risk factor. The disease is characterized by recumbency, gastrointestinal stasis, and coma, and is generally fatal.