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Summary
THIOPURINE METHYLTRANSFERASE DEFICIENCY
THIOPURINES, POOR METABOLISM OF, 1 THPM1
610460
OMIM = Online Medalian Inheritance of Men
613687
6p22.3
very rare
autosomal recessive
mutation in the TPMT gene
decreased metabolism of thiopurine drugs
symptoms
bone marrow abnormality
liver involvement or dysfunction
no consistent clinical signs or symptoms
onset, adolescent
onset, childhood
pancytopenia
laboratory finding
no specific laboratory findings (P, S, U ,CSF)
Literature
Morali A,et al.Hyperammonemia during total parenteral nutrition in childrenArch Fr Pediatr40291-941983
Dudley J,Rogers R, Sealy LRenal consequences of parenteral nutritionPediatr Nephrol293375-3852014
Grazer RE,et al.Hyperammonemic encephalopathy due to essential amino acid hyperalimentationArch Intern Med144113378-22791984
Kapila S,et al.Arginine deficiency-induced hyperammonemia in a home total parenteral nutrition-dependent patient: a case reportJPEN J Parenter Enteral Nutr255286-2882001
Hackl JM,et al.Hyperammonemia during parenteral nutrition of intensive-care patientsInfusionsther Klin Ernahr44212-2161977
Welsh E,Kucera J, Perloff MDIatrogenic hyperammonemia after anorexiaArch Intern Med1705486-4882010
Johnson JD,Albritton WL, Sunshine PHyperammonemia accompanying parenteral nutrition in newborn infantsJ Pediatr811154-1611972
Pillai U,et al.A rare case of hyperammonemia complication of high-protein parenteral nutritionJPEN J Parenter Enteral Nutr371134-1372013