familial hypertryptophanemia

info · Genetic

An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1.

Signs and symptoms

Increased serum serotonin
Hypertryptophanemia
Moderate intellectual disability
Limited elbow extension
Strabismus
Generalized joint hypermobility
Amplification of sexual behavior
Camptodactyly of finger
Stuttering
Tryptophanuria

Also known as: HYPTRP