Symptoms include mental retardation, growth failure, deafness, neurologic abnormalities, and slow metabolism. Treatment is levothyroxine, thyroid hormone replacement therapy, given orally. Biotinidase deficiency . A deficiency of biotin, part of the Vitamin B complex, leading to multiple carboxylase deficiency. Symptoms include seizures, hypotonia, immune system impairment, skin rashes, hair loss, hearing loss, and mental retardation.
Treatment is oral biotin supplementation.
CAH causes increased androgen production, resulting in ambiguous genitalia and virilization in girls and early virilization in boys. Other symptoms are accelerated skeletal maturation and ultimate short stature. Treatment is glucocorticosteroids. Symptoms are lifelong hemolytic anemia, abnormally shaped blood cells leading to acute and chronic tissue damage, intermittent cardiac crises, enlarged spleen, and sepsis. Ongoing therapy is penicillin prophylaxis and vigilant treatment of infections.