Article
Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene.
BMJ case reports - 12 Dec 2020
Verhoeven Willem M A, Egger Jos I M, Janssen Paddy K C, van Haeringen Arie
Abstract excerpt
Histamine is involved in various physiological functions like sleep-wake cycle and stress regulation. The histamine N-methyltransferase (HNMT) enzyme is the only pathway for termination of histamine neurotransmission in the central nervous system. Experiments with HNMT knockout mice generated aggressive behaviours and dysregulation of sleep-wake cycles. Recently, seven members of two unrelated consanguineous...
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