Hyperlysinemia

Alternative Names

  • Lysine:Alpha-Ketoglutarate Reductase Deficiency
  • Alpha-Aminoadipic Semialdehyde Synthase Deficiency
  • Lysine Intolerance
  • L-Lysine:NAD-Oxido-Reductase Deficiency
Back to search Result
WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

238700

Mode of Inheritance

Autosomal recessive

Gene Map Locus

7q31.3

Description

Hyperlysinuria is an inborn error of metabolism, characterized by high amounts of the amino acid lysine in the urine causing a heavy load on the renal tubules. This condition arises due to the deficiency of the aminoadipic semialdehyse synthase enzyme that is involved in the metabolism of lysine. Apart from the high levels of lysine in the urine, usually, no other clinical signs can be seen. Thus, the condition is a benign one, with no adverse physical or mental effects.

Molecular Genetics

Hyperlysinuria is transmitted in an autosomal recessive manner. The gene responsible for this condition is the AASS (Aminoadipate-Semialdehyde Synthase) gene. This gene codes for a bi-functional enzyme that catalyzes the first two steps in the oxidative degradation of lysine. In the deficiency of this enzyme, lysine is no longer able to be converted to aminoadipic semiladehyde and undergo further metabolism. The excess lysine is excreted out through the kidneys.

Epidemiology in the Arab World

View Map

Other Reports

Kuwait

Yadav et al. (1992) performed a quatitative HPLC analysis to detect any cases of aminoacidopathies among a group of 187 institutionalized mentally retarded patients (118 females) in Kuwait, during a 4-year period. One patient (0.23%) was detected to have hyperlysinuria.

Lebanon

In a retrospective analysis of IEMs diagnosed over a 12-year period (1998-2010) in a hospital in Lebanon, Karam et al. (2013) found one patient diagnosed with hyperlysinemia. The patient was diagnised at the age of 4-years.

© CAGS 2024. All rights reserved.