Miscellaneous Metabolic Disorders
Gene: AASS
Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic. Given the broad range of clinical features and the presence of consanguinity in several families, there was not strong evidence for causality of symptoms. It has been suggested that hyperlysinemia is a benign metabolic variant rather than a disease entity.Created: 29 Aug 2020, 7:49 a.m. | Last Modified: 29 Aug 2020, 7:50 a.m.
Panel Version: 0.4002
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperlysinemia, MIM# 238700
Publications
Tag disputed tag was added to gene: AASS.
Gene: aass has been classified as Amber List (Moderate Evidence).
Gene: aass has been classified as Amber List (Moderate Evidence).
gene: AASS was added gene: AASS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AASS were set to 23570448 Phenotypes for gene: AASS were set to Hyperlysinemia, MIM# 238700