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Hyperlysinemia

Field	Value
name	Hyperlysinemia
image	L-lysine-skeletal.png
caption	Lysine
synonyms	Lysine alpha-ketoglutarate reductase deficiency

Hyperlysinemia is an autosomal recessive metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign. It is caused by mutations in AASS, which encodes α-aminoadipic semialdehyde synthase.

Hyperlysinemia is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens) in humans.

Signs and symptoms

While hyperlysinemia typically causes no health problems, patients may exhibit behavioral abnormalities, delayed speech and language development, infantile hypotonia, intellectual disability, microcephaly, neurodevelopmental delay, psychomotor retardation, seizures, short attention spans, and short stature.

Genetics

Hyperlysinemia has an autosomal recessive pattern of [[inheritance

Hyperlysinemia is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, 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 one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

References

"Hyperlysinemia {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
(June 2000). "Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia". American Journal of Human Genetics.
(May 1983). "The prognosis of hyperlysinemia: an interim report". Am J Hum Genet.
(Apr 9, 2013). "Genetic basis of hyperlysinemia". Orphanet J Rare Dis.
Eifrig, Charles W. (10 March 2015). "Ectopia Lentis Clinical Presentation: Causes". WebMD LLC.
Basak, Samar K.. (2013). "Atlas of clinical ophthalmology". Jaypee brothers.
Kaiser, Neil J. Friedman, Peter K.. (2012). "Case reviews in ophthalmology". Saunders Elsevier.
"Hyperlysinemia".

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

amino-acid-metabolism-disorders autosomal-recessive-disorders rare-diseases

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