|rsID Number||Major Allele||Minor Allele||Minor Allele Frequency (%)||Major Amino Acid||Minor Amino Acid|
The very rare risk ‘C’ allele of T32C in the ARG1 gene is associated with pronounced arginase deficiency when two risk alleles are present 3,4. Severe symptoms include frequent seizures, poor childhood growth and intellectual disability which manifest a few months after birth. As such the mutation is rapidly detected and sufferers can benefit from a reduced nitrogen diet.
There is some evidence to suggest that in those carrying a single risk ‘C’ allele total arginase activity may also be reduced, although no direct evidence of symptoms arising from this reduction is provided.
Manganese is a vital mineral cofactor required by ARG1 to function correctly 5. It is unclear what risk is associated with carrying a single ‘C’ allele in T32C however manganese supplementation may ensure that ARG1 functions maximally.
|Reduced nitrogen (protein) diet|
Restriction of dietary nitrogen has been successful in treating severe forms of arginase deficiency, as can occur when carrying two risk ‘C’ alleles of T32C, preventing a buildup of ammonia 3.
It is unclear exactly to what extent carrying a single risk ‘C’ allele of T32C affects nitrogen processing and ammonia accumulation. Blood tests are available to assess levels of ammonia in the blood, if elevated a reduction in dietary protein may prove beneficial.
Discuss this information with your doctor before taking any course of action.