An inherited metabolic disorder may be associated with alopecia or hair shaft abnormalities.


Alopecia associated with the metabolic disorder:

(1) holocarboxylase synthetase deficiency (with alopecia totalis)

(2) biotinidase deficiency

(3) porphyria

(4) vitamin D-resistant rickets Type II (involving the receptor for 1,25-hydroxycalciferol, with alopecia totalis)


Alopecia secondary to protein malnutrition caused by dietary restrictions:

(1) organic aciduries

(2) urea cycle disorders


Conditions with hair shaft abnormalities:

(1) arginine-succinic aciduria (with trichorrhexis nodosa)

(2) Menkes disease (with trichorrhexis nodosa, pili torti or monilethrix)


To read more or access our algorithms and calculators, please log in or register.