An inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. Mostly occurs in males who suffer delayed growth and puberty. Female carriers have increased risk of developing gouty arthritis.
Cause(s) :
Mutations in the HPRT gene located on the X-chromosome.
Symptoms :
Neurologic dysfunction
Cognitive and behavioural disturbances
Over production of uric acid:
Sand-like crystals of uric acid seen in diapers of affected infants
Developing uric acid crystals or stones in kidney, ureter or bladder, leading to arthritis
Hematuria (blood in urine)
Nervous system:
Decreased muscle tone
Developmental delay, noticeable by three to six months of age
Involuntary muscle contraction
Loss of motor control
Writhing motions
Arching of spine
Spasticity
Overactive reflexes
Self-Injuring behaviour due to cognitive impairment:
Biting lips
Finger biting
Head banging
LNS in females:
Carrier females are generally asymptomatic
Some females experience increased uric acid excretion
Diagnosis and Tests : Testing for three clinical elements
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Careers
