OMIM = Online Medalian Inheritance of Men
  • avoidance of sea-foods containing TMA-oxide
  • charcoal
  • choline-restricted diet
  • copper chlorophyllin
  • desmopressin (DDAVP)
  • metronidazole
  • neomycin
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]
The primary genetic form causes decreased FMO3 activity, and a secondary form is due to TMA or to TMA-precursor overload [Kim JH 2017]
behavior, self-mutilating or destructive
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
Trimethylamin10.00300.00 mmol/mol creatinineurine
MRS, brain, abnormalities - 70.00 mmol/mol creatinineurine
Trimethylamin-N-oxide0.000.00 mmol/mol creatinineurine
TMA/TMA-N-oxide 0.70 ratiourine
Wijnhoven SWet al.Chemical carcinogens induce varying patterns of LOH in mouse T-lymphocytesCarcinogenesis241139-1442003
Goldin Eet al.Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescentPediatr Res376687-6921995
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
Eklund EAet al.Molecular and clinical description of the first US patients with congenital disorder of glycosylation IgMol Genet Metab84125-312005
Zeigler Met al.Mucolipidosis type IV: accumulation of phospholipids and gangliosides in cultured amniozic cells. A tool for prenatal diagnosisPrenat Diagn12121037-10421992
Clarke LAMucopolysaccharidosis Type IGeneReviews-« Internet002016
Amir NZlotogora J, Bach GMucolipidosis type IV: clinical spectrum and natural historyPediatrics790953-9591987
Denecke Jet al.Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteinsPediatr Res582248-2532005
da Silva EM,et al.Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)Cochrane Database Syst Rev202016
Bradley LA,Haddow HRM, Palomaki GETreatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence reviewGenet Med002017
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
Sun Let al.Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasiaJ Clin Endocrinol Metab9074371-43752005
Scarpa MMucopolysaccharidosis Type IIGeneReviews-« Internet002015
Shield JPet al.3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single familyClin Dysmorphol103189-1912001
Hansske Bet al.Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IIdJ Clin Invest1096725-7332002
Jameson E,Jones S, Wraith JEEnzyme replacement therapy with laronidase (Aldurazyme(-«)) for treating mucopolysaccharidosis type ICochrane Database Syst Rev1102013
Roberts J,Stewart C, Kearney SManagement of the behavioural manifestations of Hunter syndromeBr J Nurs25126-302016
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
Clarke LAMucopolysaccharidosis Type IGeneReviews-« Internet002016
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