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Summary
TRIMETHYLAMINURIA
FISH ODOR SYNDROME FMO3 DEFICIENCY
602079
OMIM = Online Medalian Inheritance of Men
468726
1q24.3
  • avoidance of sea-foods containing TMA-oxide
  • charcoal
  • choline-restricted diet
  • copper chlorophyllin
  • desmopressin (DDAVP)
  • metronidazole
  • neomycin
rare
autosomal recessive
1) primary genetic form,
2) acquired form,
3) childhood forms,
4) transient form associated with menstruation,
5) precursor overload and
6) disease states [Cashman, JR et al. 2003]
symptoms
anemia
behavior, self-mutilating or destructive
depression
infections (severe or recurrent)
neutropenia (decreased neutrophils)
no consistent clinical signs or symptoms
onset, childhood
onset, infancy
onset, neonatal
rotting fish odor
splenomegaly (large spleen)
unusual odor / odour
laboratory finding
Trimethylamine10.00300.00 mmol/mol creatinineurine
MRS, brain, abnormalities -
Trimethylamin-N-oxide0.000.00 decreasedurineno data
Literature
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Denecke Jet al.An activated 5 cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)Hum Mutat235477-4862004
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Taniguchi AAdenine phosphoribosyltransferase (APRT)Nippon Rinsho61177-802003
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Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
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