Visit Metagene.de!
Summary
CHOLESTATIC LIVER DISEASE DD
Neonatal cholestasis occurs in approximately 1 in 2500 term infants (conjugated hyperbilirubinemia)
Age of presentaion <3 months:
- Biliary Atresia
- Infections (viral hepatitis, cytomegaly, toxoplasmosis, others)
- Alpha 1-antitrypsin deficiency
- Cystic fibrosis
- Niemann-Pick disease type C
- Tyrosineamie type I
- Alagille syndrome
- Citrin deficiency (Eeast Asian)
- Genetic conditions
- Metabolic disorders, storage diseases
- Endocrine Disorders (e.g. CPHD, hypopituitarism)
- Preterm infants (multifactorial etiology)
Age of presentaion >3 months:
- Rotor syndrome
- Dubin-Johnson-Syndrome
- Pregressive familial intrahepatic cholestasis (Byler disease)
cholestasis might represent a pitfall in oxysterol measurements intended to aid diagnosis of NPC in affected patients [Plo G et al. 2016]
symptoms
cholestasis
hyperbilirubinemia
onset, infancy
onset, neonatal
stool color
laboratory finding
Bilirubin, conjugated0.000.00 >15% of total Bilirubinserumnewborn
7-ketocholesterol increasedplasma
Literature
Timson DJThe molecular basis of galactosemia - Past, present and futureGene5892133-1412016
Nguyen TVet al.Identification of isobutyryl-CoA dehydrogenase and its deficiency in humansMol Genet Metab77168-792002
Timson DJThe molecular basis of galactosemia - Past, present and futureGene5892133-1412016
Roe CRet al.Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolismMol Genet Metab654264-2711998
McAuley M,et al.Galactokinase promiscuity: a question of flexibility?Biochem Soc Trans441116-1222016
Shafqat N,et al.A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiencyJ Inherit Metab Dis366983-9872013
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
Caciotti A,et al.Galactosialidosis: review and analysis of CTSA gene mutationsOrphanet J Rare Dis801142013
Fukao T,et al.Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiencyBiochim Biophys Acta18125619-6242011
Timson DJThe molecular basis of galactosemia - Past, present and futureGene5892133-1412016
Lehman A,et al.Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assemblyMol Genet Metab106199-1032012
Kartal A,Ayd-┬Žn KA Turkish case of galactosialidosis with a new homozygous mutation in CTSA geneMetab Brain Dis324973-9752017