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Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
A genetic disorder is a health problem caused by one or more abnormalities in the genome.It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality.
Human biology is an interdisciplinary area of academic study that examines humans through the influences and interplay of many diverse fields such as genetics, evolution, physiology, anatomy, epidemiology, anthropology, ecology, nutrition, population genetics, and sociocultural influences.
These include Huntington's disease, cystic fibrosis or Duchenne muscular dystrophy. Cystic fibrosis, for example, is caused by mutations in a single gene called CFTR and is inherited as a recessive trait. [16] Other diseases are influenced by genetics, but the genes a person gets from their parents only change their risk of getting a disease.
Pathology is the medical discipline that describes conditions typically observed during a disease state, whereas physiology is the biological discipline that describes processes or mechanisms operating within an organism. Pathology describes the abnormal or undesired condition (symptoms of a disease), whereas pathophysiology seeks to explain ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
These findings are congruent with the genetic association of bipolar with CACNAC1, an L-type calcium channel, [101] as well as the efficacy of anti-epileptic agents. [106] Normal platelets placed in plasma from people with bipolar disorder do not demonstrate elevated levels of intracellular calcium, indicating that dysfunction lies intracellularly.
Physiology (/ ˌ f ɪ z i ˈ ɒ l ə dʒ i /; from Ancient Greek φύσις (phúsis) 'nature, origin' and -λογία () 'study of') [1] is the scientific study of functions and mechanisms in a living system.