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Hyperlysinemia
Other namesLysine alpha-ketoglutarate reductase deficiency[1]
lysine
SpecialtyEndocrinology Edit this on Wikidata

Hyperlysinemia is an autosomal recessive[2] metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign.[3] It is caused by mutations in AASS, which encodes α-aminoadipic semialdehyde synthase.[2][4]

Hyperlysinemia is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens) in humans.[5][6][7]

Genetics

Hyperlysinemia has an autosomal recessive pattern of inheritance

Hyperlysinemia is inherited in an autosomal recessive manner.[2] 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.

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.[8]

Diagnosis

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Treatment

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See also

References

  1. ^ "Hyperlysinemia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 16 April 2019.
  2. ^ a b c Sacksteder KA, Bier BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT (June 2000). "Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia". American Journal of Human Genetics. 66 (6): 1736–1743. doi:10.1086/302919. PMC 1378037. PMID 10775527.
  3. ^ Dancis, J; Hutzler J; Ampola MG; Shih VE; van Gelderen HH; Kirby LT; Woody NC (May 1983). "The prognosis of hyperlysinemia: an interim report". Am J Hum Genet. 35 (3): 438–442. PMC 1685659. PMID 6407303.
  4. ^ Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M (Apr 9, 2013). "Genetic basis of hyperlysinemia". Orphanet J Rare Dis. 8: 57. doi:10.1186/1750-1172-8-57. PMC 3626681. PMID 23570448.
  5. ^ Eifrig, Charles W (10 March 2015). "Ectopia Lentis Clinical Presentation: Causes". Medscape. WebMD LLC. Retrieved 9 December 2015.
  6. ^ Basak, Samar K. (2013). Atlas of clinical ophthalmology (Second ed.). New Delhi: Jaypee brothers. p. 231. ISBN 9789350903254.
  7. ^ Kaiser, Neil J. Friedman, Peter K. (2012). Case reviews in ophthalmology. Edinburgh: Saunders Elsevier. p. 184. ISBN 9781437726138.((cite book)): CS1 maint: multiple names: authors list (link)
  8. ^ "Hyperlysinemia". Genetics and Rare Diseases Information Center. Retrieved 21 February 2023.

External links

Classification
Inborn error of amino acid metabolism
Categories