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Summary
ZINC DEFICIENCY, TRANSIENT NEONATAL TNZD FEEDING: BREAST MILK DD
ZINC DEFICIENCY, NEONATAL, DUE TO LOW BREAST MILK ZINC
608118
OMIM = Online Medalian Inheritance of Men
1p36.11
very rare
autosomal dominant (mother)
mutation in the maternal SLC30A2 gene
Symptoms occur only in exclusively breastfed infants:
- affected mothers have reduced zinc levels in breast milk
- affected mothers have normal plasma zinc levels
-
breastfed infants have transient decrease of plasma zinc levels
symptoms
alopecia
dermatitis
diarrhea
onset, infancy
pain, abdominal
skin defects
laboratory finding
Zinc decreasedbreast milk (mother)
Zinc decreasedplasma
Literature
Khan SA,Shagufta KA rare case of fish odor syndrome presenting as depressionIndian J Psychiatry562185-1872014
DAngelo R,et al.Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case reportJ Med Case Rep803282014
Robertson D,Garland EMDopamine Beta-Hydroxylase DeficiencyGeneReviews-« InternetGeneReviews-« Internet002015
Gordon NSegawas disease: dopa-responsive dystoniaInt J Clin Pract626943-9462008
Erez A,et al.Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literatureAm J Med Genet A1523732-7362010
Shimizu M,et al.Relationships between flavin-containing mono-oxygenase 3 (FMO3) genotype and trimethylaminuria phenotype in a Japanese populationBr J Clin Pharmacol775839-8512014
Miller NB,et al.Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndromeJIMD Rep12011-152014
Furukawa YGTP Cyclohydrolase 1-Deficient Dopa-Responsive DystoniaSource GeneReviews-« InternetSource GeneReviews-« Internet002015
Senard JM,Rouet PDopamine beta-hydroxylase deficiencyOrphanet J Rare Dis1072006
Kaler SGATP7A-Related Copper Transport DisordersGeneReviews-« Internet002016
Messenger J,et al.A review of trimethylaminuria: (fish odor syndrome)J Clin Aesthet Dermatol61145-482013