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Hyperlysinemia is an
Hyperlysinemia is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an
autosomal
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in au ...
recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
metabolic disorder
A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the ...
characterized by an abnormal increase of lysine
Lysine (symbol Lys or K) is an α-amino acid that is a precursor to many proteins. It contains an α-amino group (which is in the protonated form under biological conditions), an α-carboxylic acid group (which is in the deprotonated −C ...
in the blood
Blood is a body fluid in the circulatory system of humans and other vertebrates that delivers necessary substances such as nutrients and oxygen to the cells, and transports metabolic waste products away from those same cells. Blood in the c ...
, but appears to be benign. It is caused by mutations in ''AASS
Aass Brewery (Norwegian: ''Aass Bryggeri'') is Norway's oldest brewery still active. Founded in 1834 in Drammen, Norway, the brewery's primary products are beer and aquavit. The company also produces a wide range of soft drinks. Aass was also c ...
'', which encodes α-aminoadipic semialdehyde synthase.
Hyperlysinemia is associated with ectopia lentis
Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location. A partial dislocation of a lens is termed lens subluxation or subluxated lens; a complete dislocation of a lens is termed lens luxation or lu ...
(a displacement or malposition of the eye's crystalline lens) in humans.
Genetics
Hyperlysinemia is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in au ...
, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry
Carry or carrying may refer to:
People
*Carry (name)
Finance
* Carried interest (or carry), the share of profits in an investment fund paid to the fund manager
* Carry (investment), a financial term: the carry of an asset is the gain or cost of h ...
one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Diagnosis
Treatment
See also
*Saccharopinuria
Saccharopinuria (an excess of saccharopine in the urine), also called saccharopinemia, saccharopine dehydrogenase deficiency or alpha-aminoadipic semialdehyde synthase deficiency, is a variant form of hyperlysinemia. It is caused by a partial de ...
References
External links
Amino acid metabolism disorders Autosomal recessive disorders {{genetic-disorder-stub