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Inborn disorder of bilirubin metabolism

MedGen UID:
1671515
•Concept ID:
C0349427
•
Disease or Syndrome
Synonyms: bilirubin metabolism disorder; disorder of bilirubin metabolism and excretion; Disorder of bilirubin metabolism and excretion; hereditary bilirubin metabolism disease; inborn disorder of bilirubin metabolism; inborn disorder of bilirubin metabolism and excretion
 
Monarch Initiative: MONDO:0017755
Orphanet: ORPHA309816

Definition

An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome. [from MONDO]

Professional guidelines

PubMed

Management of pyruvate kinase deficiency in children and adults.
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF
Am J Hematol 2020 May;95(5):472-482. Epub 2020 Mar 6 doi: 10.1002/ajh.25753. PMID: 32043619Free PMC Article
Cytomegalovirus hepatitis and ganciclovir treatment in immunocompetent children.
Tezer H, Seçmeer G, Kara A, Ceyhan M, Cengiz AB, Devrim I, Us D, Yüce A, Gürakan F, Yildirim I, Ozen H, Saltik-Temizel IN
Turk J Pediatr 2008 May-Jun;50(3):228-34. PMID: 18773667

Recent clinical studies

Etiology

Changing Etiologies and Prognostic Factors in Pediatric Acute Liver Failure.
Mendizabal M, Dip M, Demirdjian E, Lauferman L, Lopez S, Minetto J, Costaguta A, Rumbo C, Malla I, Sanchez MC, Halac E, Cervio G, Cuarterolo M, Galoppo M, Imventarza O, Bisgniano L, D'Agostino D, Rubinstein F
Liver Transpl 2020 Feb;26(2):268-275. Epub 2019 Dec 20 doi: 10.1002/lt.25658. PMID: 31606931
Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives.
Lysy PA, Najimi M, Stephenne X, Bourgois A, Smets F, Sokal EM
World J Gastroenterol 2008 Jun 14;14(22):3464-70. doi: 10.3748/wjg.14.3464. PMID: 18567072Free PMC Article
Sickle cell disease: a multigenic perspective of a single-gene disorder.
Kutlar A
Med Princ Pract 2005;14 Suppl 1:15-9. doi: 10.1159/000086180. PMID: 16103709
Understanding neonatal hyperbilirubinaemia in the era of genomics.
Watchko JF, Daood MJ, Biniwale M
Semin Neonatol 2002 Apr;7(2):143-52. doi: 10.1053/siny.2002.0102. PMID: 12208099
Acute liver failure.
Kelly DA
Indian J Pediatr 1999;66(1 Suppl):S104-9. PMID: 11132456

Diagnosis

Management of pyruvate kinase deficiency in children and adults.
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
Understanding neonatal hyperbilirubinaemia in the era of genomics.
Watchko JF, Daood MJ, Biniwale M
Semin Neonatol 2002 Apr;7(2):143-52. doi: 10.1053/siny.2002.0102. PMID: 12208099
Acute liver failure.
Kelly DA
Indian J Pediatr 1999;66(1 Suppl):S104-9. PMID: 11132456
Amniocentesis.
Schwarz RH
Clin Obstet Gynecol 1975 Jun;18(2):1-22. doi: 10.1097/00003081-197506000-00001. PMID: 1095272
Neonatal nonhemolytic jaundice.
Johnson JD
N Engl J Med 1975 Jan 23;292(4):194-7. doi: 10.1056/NEJM197501232920406. PMID: 803225

Therapy

Management of pyruvate kinase deficiency in children and adults.
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
Therapeutic application of chimeric RNA/DNA oligonucleotide based gene therapy.
Lai LW, Lien YH
Expert Opin Biol Ther 2001 Jan;1(1):41-7. doi: 10.1517/14712598.1.1.41. PMID: 11727546
Amniocentesis.
Schwarz RH
Clin Obstet Gynecol 1975 Jun;18(2):1-22. doi: 10.1097/00003081-197506000-00001. PMID: 1095272
Neonatal nonhemolytic jaundice.
Johnson JD
N Engl J Med 1975 Jan 23;292(4):194-7. doi: 10.1056/NEJM197501232920406. PMID: 803225
Inborn errors of metabolism. Vitamin-responsive genetic disease.
Mudd SH
J Clin Pathol Suppl (R Coll Pathol) 1974;8:38-47. PMID: 4220222Free PMC Article

Prognosis

Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.
Qiu YL, Wang L, Huang M, Lian M, Wang F, Gong Y, Ma X, Hao CZ, Zhang J, Li ZD, Xing QH, Cao M, Wang JS
J Cell Physiol 2022 Jun;237(6):2713-2723. Epub 2022 May 27 doi: 10.1002/jcp.30788. PMID: 35621037
Changing Etiologies and Prognostic Factors in Pediatric Acute Liver Failure.
Mendizabal M, Dip M, Demirdjian E, Lauferman L, Lopez S, Minetto J, Costaguta A, Rumbo C, Malla I, Sanchez MC, Halac E, Cervio G, Cuarterolo M, Galoppo M, Imventarza O, Bisgniano L, D'Agostino D, Rubinstein F
Liver Transpl 2020 Feb;26(2):268-275. Epub 2019 Dec 20 doi: 10.1002/lt.25658. PMID: 31606931
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W
Blood 2018 May 17;131(20):2183-2192. Epub 2018 Mar 16 doi: 10.1182/blood-2017-10-810796. PMID: 29549173
Acute liver failure.
Kelly DA
Indian J Pediatr 1999;66(1 Suppl):S104-9. PMID: 11132456
Use of the laboratory in prediction of outcome in the high-risk newborn.
Synnes AR
Clin Chem 1997 Jan;43(1):243-8. PMID: 8990260

Clinical prediction guides

Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.
Qiu YL, Wang L, Huang M, Lian M, Wang F, Gong Y, Ma X, Hao CZ, Zhang J, Li ZD, Xing QH, Cao M, Wang JS
J Cell Physiol 2022 Jun;237(6):2713-2723. Epub 2022 May 27 doi: 10.1002/jcp.30788. PMID: 35621037
Use of Lactulose to Treat Hyperammonemia in ICU Patients Without Chronic Liver Disease or Significant Hepatocellular Injury.
Cutler NS, Sadowski BW, MacGregor DA
J Intensive Care Med 2022 May;37(5):698-706. Epub 2021 Jun 8 doi: 10.1177/08850666211023004. PMID: 34098777
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W
Blood 2018 May 17;131(20):2183-2192. Epub 2018 Mar 16 doi: 10.1182/blood-2017-10-810796. PMID: 29549173
Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.
Boenzi S, Deodato F, Taurisano R, Goffredo BM, Rizzo C, Dionisi-Vici C
J Lipid Res 2016 Mar;57(3):361-7. Epub 2016 Jan 5 doi: 10.1194/jlr.M061978. PMID: 26733147Free PMC Article
Use of the laboratory in prediction of outcome in the high-risk newborn.
Synnes AR
Clin Chem 1997 Jan;43(1):243-8. PMID: 8990260

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