Symbol
| HAL
|
Location
| 12q22-q23.1
|
Name
|
histidinemia |
Other name(s)
|
histidine ammonia-lyase deficiency |
Corresponding gene
|
HAL
|
Main clinical features
|
mental retardation and speech difficulties, with elevated histidine in body fluids and decreased urocanic acid in blood and skin |
Genetic determination
| autosomal recessive |
Function/system disorder
| metabolism/aminoacids |
Type
| disease
|
Name
| histidine ammonia lyase, histidase (HAL)
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
missense
|  
| abnormal protein/loss of function
| R322P and P259L
| |