DDx
Differential Diagnoses
Media Gallery
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Purine metabolic pathways.
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A small portion of the lower lip has been disfigured by persistent self-biting.
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The distal portions of several fingers are shortened by prior uncontrolled self-biting.
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The HPRT gene has 9 exons, with the coding region depicted as light gray boxes. Genetic mutations in Lesch-Nyhan disease and its variants are heterogenous and include point mutations leading to amino acid substitution (yellow circles), point mutations leading to premature stop (red squares), insertions (blue triangles), deletions (white lines), and other more complex changes (not shown).
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