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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 clinical signs or symptoms
rotting fish odor
splenomegaly (large spleen)
laboratory finding
Trimethylamin87.00322.00 mmol/mol creatinineurineall
MRS, brain, abnormalities -
Trimethylamin-N-oxide0.000.00 decreasedurineno data
Literature
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Bennett MJet al.Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyJ Inherit Metab Dis173283-2861994
Verhoeven NMet al.Plasma creatinine assessment in creatine deficiency: A diagnostic pitfallJ Inherit Metab Dis238835-8402000
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Amir NZlotogora J, Bach GMucolipidosis type IV: clinical spectrum and natural historyPediatrics790953-9591987
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Schollen Eet al.CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)Eur J Med Genet482153-1582005
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Schollen Eet al.Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)J Med Genet417550-5562004
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
Mize CEet al.Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage diseaseJ Inherit Metab Dis203407-4101997
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Taniguchi AAdenine phosphoribosyltransferase (APRT)Nippon Rinsho61177-802003
MacDonald Aet al.Factors affecting the variation in plasma phenylalanine in patiets with phenylketonuria on dietArch Dis Child745412-4171996
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Zdebska Eet al.Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation IgPediatr Res542224-2292003