OMIM = Online Medalian Inheritance of Men

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
increased urinary excretion of 3-hydroxydicarboxylic acids
- Wolcott-Rallison syndrome
- Thanatophoric dysplasia
- Glycogen storage disease,
early death
liver failure
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
laboratory finding
3-Hydroxydicarboxylic acid mmol/mol creatinineurine
Shneider BLet al.Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosisJ Pediatr1242234-2381994
Treacy EPitt J, Eggington M, Hawkins RDicarboxylic aciduria, significant and prognostic indicationsEur J Pediatr15309181994
Clayton PTDelta 4-3-oxosteroid 5 beta-reductase deficiency and neonatal hemochromatosis letterJ Pediatr1250845-8461994
Bothwell THCharlton RW, Motulsky AGHemochromatosisThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.302237-22691995
Wisser Jet al.Neonatal hemochromatosis: a rare cause of nonimmune hydrops fetalis and fetal anemiaFetal Diagn Ther84273-2781993
Kimura Cet al.2,4-Dienoyl-CoA reductases: from discovery toward pathophysiological significanceNippon Rinsho6281577-15832004
Hayes AMet al.Neonatal hemochromatosis: diagnosis with MR imagingAJR Am J Roentgenol1593623-6251992
Saudubray JM,Specola N, Middleton B, Lombes A, Bonnefont JP, Jacobs C, Vassault A, Charpentier CHyperketotic states due to inherited defects of ketolysis4th International congress of inborn errors of metabolism001986