A condition characterized by thickening of the skin on the palms of the hands and soles of the feet. The condition is associated with a risk of developing esophageal cancer which increases with age.
Hyperlipoproteinemia type 1 is a genetic disorder characterized by abnormal lipid (chylomicrons and high triglyceride lipids) breakdown which results in its accumulation in the blood. The disorder is caused by the reduced or absent activity of the enzyme lipoprotein lipase. The severity of the condition is determined by the degree of the deficiency and treatment. The disorder tends to run in families (familial).
A rare inherited blood disorder characterized by high levels of betalipoproteins and cholesterol.
A rare genetic disorder characterized by the body's impaired ability to break down certain lipids (triglycerides) which results in their buildup in the blood.
An inherited disorder where the body's ability to break down lipids (triglycerides and cholesterol) is impaired resulting in increased blood lipid levels of chylomicrons and VLDL's
Hyperlysinemia is an autosomal recessive metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign. It can be associated with saccharopine dehydrogenase.
Elevated levels of ornithine in the serum; sometimes associated with hyperammonemia and homocitrullinuria.
A very rare inherited metabolic disorder where ammonia builds up in the body due to a defect in the transport of ornithine which prevents ammonia being converted to urea and being excreted through the urine. The severity of the condition is variable.
A rare inflammatory disorder that affects bones and soft tissue in infants. The condition may affect virtually any bone and causes excessive enlargement of part of the bone (cortex). Infant feeding problems may occur if the jaw bone is affected which can affect weight gain. The inflammatory course of the disease eventually stops and over time the bones remodel to a normal appearance
A rare genetic disorder characterized by increased thickening of the bones in the skull, jaw, collar bone, ribs and the main shaft of long bones. The thickening of the bones may compress some nerves resulting in vision and hearing impairment.
A rare disorder characterized by the development of painful, recurring swellings on the long bones. The swellings are transient.
Hyperoxaluria (called Bird's disease, after Golding Bird, who first described the condition), is an excessive urinary excretion of oxalate. Individuals with hyperoxaluria often have calcium oxalate kidney stones.
Primary hyperparathyroidism causes hypercalcemia (elevated blood calcium levels) through the excessive secretion of parathyroid hormone (PTH), usually by an adenoma (benign tumors) of the parathyroid glands. Its incidence is approximately 42 per 100,000 people. It is almost exactly three times as common in women as men.
A very rare disorder where high levels of parathyroid levels affects the body's use of calcium. The bones lack sufficiency calcification and become weak.
A very rare syndrome characterized mainly by finger and toe abnormalities, unusual facial features and narrowed airways.
A rare metabolic disorder where the deficiency of an enzyme (pterin-4-alpha-carbinolamine dehydratase) can caused high blood phenylalanine levels. The condition is generally harmless and the disorder is usually only discovered accidentally in routine blood tests.
A genetic condition where phenylalanine (component of protein) is unable to be broken down due to an enzyme (phenylalanine hydroxylase) deficiency which leads to a harmful build up of the compound. The condition is characterized by neurological symptoms as well as the presence of increased levels of phenylalanine in the blood.
A rare metabolic disorder where the deficiency of an enzyme (pterin-4-alpha-carbinolamine dehydratase) can caused high blood phenylalanine levels. The condition is generally harmless and the disorder is usually only discovered accidentally in routine blood tests.
A rare metabolic disorder caused by an enzyme deficiency (GTP cyclohydrolase) which causes a harmful build up of phenylalanine in the blood.
A rare disorder characterized by high blood phenylalanine levels and excretion of primapterine in the urine due to an enzyme deficiency (pterin-4-alpha-carbinolamine dehydratase). The condition usually produces no clinical symptoms.
A rare disorder where a mother suffering from phenylketonuria during pregnancy can result in various birth abnormalities.
In hyperphosphatemia, the patient has a too high concentration of phosphorus in the blood. This can be caused by either too efficient uptake of phosphorus through the intestine, or too inefficient excretion of the mineral by the kidneys.
A too high phosphorus concentration in the blood leads to calcium-phosphate salt deposits in soft tissues and blood vessels, causing harm to all organs. It also leads to a depletion of calcium in the body (hypocalcemia), leading to weakened bones and corresponding symptoms.
Hyperphosphatemia is treated by reducing phosphate or binding surplus phosphate in the blood by medication.
A rare metabolic disorder characterized by high blood levels of pipecolic acid.
Hyperprolactinemia is a condition of elevated serum prolactin. Prolactin is a 198 amino acid protein (23-kD) produced in the lactotroph cells of the anterior pituitary gland. Its primary function is to enhance breast development during pregnancy and to induce lactation. However, prolactin also binds to specific receptors in the gonads, lymphoid cells, and liver. Secretion is pulsatile; it increases with sleep, stress, pregnancy, and chest wall stimulation or trauma, and therefore must be drawn after fasting. Normal fasting values are generally less than 30 ng/mL, depending on the individual laboratory
A very rare inherited metabolic disorder involving high levels of proline in the blood and urine due to a deficiency of the enzyme proline oxidase. There are two subtypes of the disorder with type II being more severe (higher blood levels of praline). Type I is generally asymptomatic wheras type II tends to involve neurological symptoms.
A very rare inherited metabolic disorder involving high levels of proline in the urine due to a deficiency of the enzyme delta-pyrrolidine 5-carboxylate acid dehydrogenase. Blood proline levels are higher than for hyperprolinemia type I.
Heterogeneous group of disorders characterized by a vasculitic syndrome presumed to be associated with a hypersensitivity reaction following exposure to an antigen such as an infectious agent, a drug, or other foreign or endogenous substance
Extreme sleepiness that occurs for no apparent reason. The sleepiness persists even after having a sleep and can severely affect a person's ability to function. Sufferers tend to sleep at night and still require sleep during the day.
A very rare disorder characterized by a heart defect and wide set eyes.