HYPERPHENYLALANINAEMIAS Meaning and
Definition
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Hyperphenylalaninaemias, also known as hyperphenylalaninemias or hyperphenylalaninemia disorders, are a group of rare inherited metabolic disorders characterized by elevated levels of phenylalanine in the blood. Phenylalanine is an essential amino acid that is obtained through the diet and plays a crucial role in the production of several important neurotransmitters, including dopamine, norepinephrine, and epinephrine.
These disorders occur due to defects in the metabolism of phenylalanine, usually resulting from mutations in the genes responsible for the production or activity of the enzyme phenylalanine hydroxylase (PAH), which converts phenylalanine into another amino acid called tyrosine. As a result, phenylalanine accumulates in the body, leading to the characteristic high levels observed in affected individuals.
There are different types of hyperphenylalaninaemias, each with varying degrees of severity and clinical manifestations. The most common form is known as classical phenylketonuria (PKU), which presents in early infancy and, if left untreated, can result in intellectual disability, seizures, behavioral problems, and other neurological complications.
The diagnosis of hyperphenylalaninaemias is typically made through newborn screening programs, which test infants for elevated phenylalanine levels in the blood. Early detection and prompt treatment, primarily through a phenylalanine-restricted diet, are essential to prevent or minimize the development of symptoms and improve long-term outcomes.
In summary, hyperphenylalaninaemias are rare genetic disorders characterized by high levels of phenylalanine in the blood, leading to various neurological complications if left untreated. Timely diagnosis and lifelong management strategies, such as dietary adjustments, are crucial in optimizing the
Common Misspellings for HYPERPHENYLALANINAEMIAS
- gyperphenylalaninaemias
- byperphenylalaninaemias
- nyperphenylalaninaemias
- jyperphenylalaninaemias
- uyperphenylalaninaemias
- yyperphenylalaninaemias
- htperphenylalaninaemias
- hgperphenylalaninaemias
- hhperphenylalaninaemias
- huperphenylalaninaemias
- h7perphenylalaninaemias
- h6perphenylalaninaemias
- hyoerphenylalaninaemias
- hylerphenylalaninaemias
- hy-erphenylalaninaemias
- hy0erphenylalaninaemias
- hypwrphenylalaninaemias
- hypsrphenylalaninaemias
- hypdrphenylalaninaemias
- hyprrphenylalaninaemias
Etymology of HYPERPHENYLALANINAEMIAS
The word "Hyperphenylalaninaemias" is a medical term related to a group of genetic disorders characterized by high levels of phenylalanine in the blood. The etymology of this word can be broken down as follows:
1. Hyper-: This prefix is derived from the Greek word "hypér", meaning "over" or "above". In medical terminology, it is used to indicate excess or high levels of something.
2. Phenylalanine: This term refers to an essential amino acid found in many proteins. It is composed of "phenyl", meaning "a benzene ring", and "alanine", referring to a nonpolar amino acid. The name "phenylalanine" was derived from the scientific name of the plant genus "Philadelphus" that was used to isolate the amino acid.
