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Summary
NEONATAL CHOLESTASIS DD
- Infections (viral hepatitis, cytomegaly, toxoplasmosis, others)
- Biliary Atresia
- Genetic conditions
- Alagille syndrome
- Metabolic disorders, storage diseases
- Endocrine Disorders
- ...
cholestasis might represent a pitfall in oxysterol measurements intended to aid diagnosis of NPC in affected patients [Plo G et al. 2016]
symptoms
cholestasis
onset, neonatal
laboratory finding
Bilirubin, conjugated0.000.00 increasedserumnewborn
7-ketocholesterol increasedplasma
Literature
Nguyen TVet al.Identification of isobutyryl-CoA dehydrogenase and its deficiency in humansMol Genet Metab77168-792002
Roe CRet al.Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolismMol Genet Metab654264-2711998
Osara Y,et al.The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disordersJ Eval Clin Pract2161235-12432015
Zulfiqar M,et al.Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiencyJ Magn Reson Imaging002012