Health Illustrated Encyclopedia - Phenylketonuria
Phenylketonuria Definition Phenylketonuria (PKU) is a rare condition in which the body does not properly break down (metabolize) an amino acid called phenylalanine. Alternative Names PKU Causes Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass… related searches:hand rash
Enciclopedia Ilustrada de Salud - Examen de fenilalanina sérica
Examen de fenilalanina sérica Definición Es un examen para detectar la enfermedad denominada fenilcetonuria (PKU, por sus siglas en inglés). Con este examen se detectan niveles de fenilalanina anormalmente elevados. Nombres alternativos Fenilalanina; Fenilalanina sérica Forma en que se realiza…
Health Illustrated Encyclopedia - Genetics
…compromises respiration and greatly increases the chance of pulmonary infections. Affected individuals rarely survive to the age of 40. * Phenylketonuria (PKU ) is a common genetic disorder (1 out of 12,000 births) which results from a deficient enzyme required for the metabolism of the amino acid phenylalanine…
Endocrinology
…with suspected metabolic disease presenting as developmental delay and/or seizures, as well as known biochemical diseases such as phenylketonuria (PKU). Education Our educational activities include medical student and residency electives, as well as an accredited fellowship program in pediatric endocrinology… related searches:endocrinology | hallett center
Health Illustrated Encyclopedia - Serum phenylalanine screening
Serum phenylalanine screening Definition Serum phenylalanine screening is a test for the disease phenylketonuria (PKU). The test detects abnormally high levels of phenylalanine. Alternative Names Phenylalanine; Phenylalanine - serum How the Test is Performed The test is usually included in routine screening…
Health Illustrated Encyclopedia - Epilepsy
…Diabetes complications * Electrolyte imbalances * Kidney failure, uremia (toxic accumulation of wastes) * Nutritional deficiencies * Phenylketonuria (PKU) -- can cause seizures in infants * Other metabolic diseases, such as inborn error of metabolism * Use of cocaine, amphetamines, alcohol, or certain…
Health Illustrated Encyclopedia - Generalized tonic-clonic seizure
…mellitus complications * Electrolyte imbalances * Kidney failure, uremia (toxic accumulation of wastes) * Nutritional deficiencies * Phenylketonuria (PKU)-- rarely causing seizures in infants * Low blood sodium or glucose * Brain injury usually causes seizures 2 years after the injury. Early seizures… related searches:seizures
Health Illustrated Encyclopedia - Inborn errors of metabolism
…on the following forms of inborn errors of metabolism: * Fructose intolerance * Galactosemia * Maple sugar urine disease (MSUD) * Phenylketonuria (PKU) Recommendations Inborn errors of metabolism often demand diet changes. The type and extent of the changes depends on the specific metabolic error. For…
Health Illustrated Encyclopedia - Sweeteners
…daily levels are 18 packets of Equal or three 12-ounce diet sodas per day for a 130-pound person. For people with the genetic disorder phenylketonuria (PKU), aspartame is not recommended as they are unable to metabolize it. In the National Toxicology Program (NTP) 9 th Report on Carcinogens, May 2000, saccharin…