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A pediatric neurologist considered a seizure disorder and requested biochemical tests that confirmed Lesch-Nyhan syndrome.
A wide range of genetic conditions was represented in the study population, such as metabolic disorders, proprionic acidemia, methylmalonic acidemia, arginosiccinic acidemia; and Lesch-Nyhan syndrome, Schinzel-Giedion syndrome, tuberous sclerosis, Down syndrome, and fragile X syndrome.
lip and finger biting with Lesch-Nyhan syndrome, skin picking with Prader-Willi syndrome) suggests that certain forms of self-injury may have genetic/biological determinants, and recent advances in the field of genetics provide new and relevant research opportunities for collaborations between geneticists and behavioral psychologists to discover targets for improved therapies.
Four-year-old Chilli Turner was diagnosed with the crippling genetic disorder Lesch-Nyhan Syndrome when he was11months old.
Uric acid is the end product of purine metabolism and is elevated in other diseases of purine metabolism such as Lesch-Nyhan Syndrome.
Recent studies on the cerebral biochemistry of retarded persons who exhibit self-injurious behavior have involved the dopaminergic system, the basis being the Lesch-Nyhan syndrome model, a disorder that is linked to the X chromosome and is characterized by, among other things, mental retardation and self-mutilation (Lloyd et al.
While he was grappling with the Zurich acquisition and restoring Kemper, Timbers and his wife were trying to save their two young boys from a rare, crippling genetic disease called Lesch-Nyhan Syndrome.
In humans, the mutated HPRT gene causes Lesch-Nyhan syndrome, characterized by mental retardation and self-mutilation, including finger biting, eye gouging and head banging.
Timbers also serves as a Director of the Lesch-Nyhan Syndrome Children's Research Foundation.