Hypertryptophanemia familial
Incidence
It is a very rare condition. It has been reported in two siblings. It seems to be an autosomal recessive condition.
Clinical Characteristics
It has been reported in two siblings who show widespread joint pains, emotional lability, defective vision and stuttering. One of the siblings developed normally until the age of 14 years and then complained of fleeting pains in his abdomen and joints, precipitated by excertion. Generalized joint laxity. The girl always showed developmental delay, walked late after age three years and never talked. She probably was deaf but there was a possibility of rubella infection in uterus . She had hyperactivity with aggressive behavior. This patient has widespread joint pains, generalized joint laxity, limited elbow extension, ulnar drift of fingers and adduction of thumbs with pes planus. Neurologically there is emotional lability with delayed milestones, stuttering and aggressive outbursts. The eyes shows defective vision with strabismus, myopia, and ocular hypertelorism. It is a very rare condition associated with tryptophanuria as well as marked increase in plasma tryptophan levels. Laboratory shows tryptophanuria and hypertryptophanemia.
Precipitants
Unknown.
Provocation Tests
no
Diagnostic Procedures
There is tryptophanuria as well as marked increase in plasma tryptophan levels.