Trimethylaminuria.
We report the case of a 9-year-old boy referred to secondary care with an unusual presentation of a fishy odour to his hands, feet, saliva and urine. Laboratory investigations including urine analysis and genetic testing confirmed the diagnosis of trimethylaminuria. The patient was referred to a geneticist and dietician, and consequently treated with dietary modification. He now has an arguably much improved quality of life.
Department of Paediatrics, Pennine Acute Trusts, Oldham, UK.
Numaera
N
Sabir
Manchester Centre for Genomic Medicine, Central Manchester Foundation Trusts, Manchester, UK.
Elizabeth A
EA
Jones
Department of Paediatrics, Royal Oldham Hospital, Manchester, UK.
Beena
B
Padmakumar
D000818:Animals; D002648:Child; D005399:Fishes; D005528:Foot; D005820:Genetic Testing; D006225:Hand; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000178:diet therapy / Q000473:pathology; D008744:Methylamines / Q000652:urine*; D009812:Odorants / Q000032:analysis; D011788:Quality of Life; D012463:Saliva; D016482:Urinalysis
D008744:Methylamines