Tyrosinemia type II
| Tyrosinemia type II | |
|---|---|
| Other names | Oculocutaneous tyrosinemia, autosomal recessive)[3] |
Tyrosinemia type II is an
autosomal recessive condition with onset between ages 2 and 4 years, when painful circumscribed calluses develop on the pressure points of the palm of the hand and sole of the foot.[4]
: 512
Pathophysiology
Type II tyrosinemia is caused by a deficiency of the enzyme
skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally disabled. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.[5]
Diagnosis
Diagnosis is made based on elevated plasma tyrosine level with skin or eye lesions.[citation needed]
Treatment
Dietary restrictions of phenylalanine and tyrosine.
See also
- Palmoplantar keratoderma
- List of cutaneous conditions
References
- ^ ISBN 0-7216-2921-0.
- .
- ^ "Tyrosinemia type 2". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 24 August 2019.
- ISBN 0-07-138076-0.
- ^ "Tyrosinemia Type II". Myriad Women's Health. Retrieved 14 October 2020.