Hyperlysinemia
 | This article needs additional citations for verification. (July 2020) |
| Hyperlysinemia | |
|---|---|
| Other names | Lysine alpha-ketoglutarate reductase deficiency[1] |
 | |
| lysine | |
| Specialty | Endocrinology  |
Hyperlysinemia is an
Hyperlysinemia is associated with
Genetics
Hyperlysinemia is inherited in an autosomal recessive manner.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,
neurodevelopmental delay, psychomotor retardation, seizures, short attention spans, and short stature.[8]
Diagnosis
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Treatment
| This section is empty. You can help by adding to it. (January 2017) |
See also
References
- ^ "Hyperlysinemia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 16 April 2019.
- ^ PMID 10775527.
- PMID 6407303.
- PMID 23570448.
- ^ Eifrig, Charles W (10 March 2015). "Ectopia Lentis Clinical Presentation: Causes". Medscape. WebMD LLC. Retrieved 9 December 2015.
- ISBN 9789350903254.
- ISBN 9781437726138.)
{{cite book}}: CS1 maint: multiple names: authors list (link - ^ "Hyperlysinemia". Genetics and Rare Diseases Information Center. Retrieved 21 February 2023.