A number of abnormalities and symptoms have been observed with<unk> . Musculoskeletal effects include: joint contractures of the elbows and interphalangeal joints of the fingers and thumbs (specifically the distal phalanges), pes planus (fallen arches), an ulnar drift affecting the fingers of both hands (an unusual, yet correctible feature where the fingers slant toward the ulnar side of the forearm), joint pain and laxity, and adduction of the thumbs (where the thumb appears drawn into the palm, related to contracture of the adductor pollicis). Behavioral, developmental and other anomalies often include: hypersexuality, perceptual hypersensitivity, emotional lability (mood swings), hyperaggressive behavior; hypertelorism (widely-set eyes), optical strabismus (misalignment) and myopia. Metabolically,<unk>  results in tryptophanuria and exhibits significantly elevated serum levels of tryptophan, exceeding 650% of maximum (normal range: 25-73 micromole/l) in some instances. A product of the bacterial biosynthesis of tryptophan is indole. The excess of tryptophan in<unk>  also results in substantial excretion of indoleic acids. These findings suggest a possible congenital defect in the metabolic pathway where tryptophan is converted to kynurenine. Kynurenine, a metabolite of tryptophan.
Hypertryptophanemia
Hyperphenylalaninemia
Hypervalinemia
Hypermethioninemia
Hyperlysinemia
Histidinemia
Hyperprolinemia
Hyperprolactinaemia