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Tryptophan malabsorption syndrome

MedGen UID:
75685
Concept ID:
C0268478
Disease or Syndrome
Synonyms: Blue diaper syndrome; Hypercalcemia, familial, with nephrocalcinosis and indicanuria
SNOMED CT: Tryptophan malabsorption syndrome (59531002); Blue diaper syndrome (59531002)
 
Monarch Initiative: MONDO:0008877
OMIM®: 211000
Orphanet: ORPHA94086

Definition

Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria. [from ORDO]

Clinical features

From HPO
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Abnormal abdomen morphology
MedGen UID:
866551
Concept ID:
C4020869
Anatomical Abnormality
A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
Hypercalcemia
MedGen UID:
5686
Concept ID:
C0020437
Disease or Syndrome
An abnormally increased calcium concentration in the blood.
Abnormal circulating tryptophan concentration
MedGen UID:
870874
Concept ID:
C4025335
Finding
Any deviation from the normal concentration of tryptophan in the blood circulation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTryptophan malabsorption syndrome
Follow this link to review classifications for Tryptophan malabsorption syndrome in Orphanet.

Professional guidelines

PubMed

Knez E, Kadac-Czapska K, Grembecka M
Nutrition 2024 Aug;124:112464. Epub 2024 Apr 5 doi: 10.1016/j.nut.2024.112464. PMID: 38657418
Naraev BG, Halland M, Halperin DM, Purvis AJ, OʼDorisio TM, Halfdanarson TR
Pancreas 2019 Sep;48(8):961-972. doi: 10.1097/MPA.0000000000001384. PMID: 31425482Free PMC Article

Recent clinical studies

Etiology

Gong C, Saborit C, Long X, Wang A, Zheng B, Chung H, Lewis SK, Krishnareddy S, Bhagat G, Green PHR, Kong XF
Clin Transl Gastroenterol 2023 Dec 1;14(12):e00639. doi: 10.14309/ctg.0000000000000639. PMID: 37753949Free PMC Article
Leonard MM, Valitutti F, Karathia H, Pujolassos M, Kenyon V, Fanelli B, Troisi J, Subramanian P, Camhi S, Colucci A, Serena G, Cucchiara S, Trovato CM, Malamisura B, Francavilla R, Elli L, Hasan NA, Zomorrodi AR, Colwell R, Fasano A; CD-GEMM Team
Proc Natl Acad Sci U S A 2021 Jul 20;118(29) doi: 10.1073/pnas.2020322118. PMID: 34253606Free PMC Article
Enko D, Wagner H, Kriegshäuser G, Brandmayr W, Halwachs-Baumann G, Schnedl WJ, Zelzer S, Mangge H, Meinitzer A
Psychiatry Res 2018 Apr;262:595-599. Epub 2017 Sep 22 doi: 10.1016/j.psychres.2017.09.049. PMID: 28965810
Varea V, de Carpi JM, Puig C, Alda JA, Camacho E, Ormazabal A, Artuch R, Gómez L
J Pediatr Gastroenterol Nutr 2005 May;40(5):561-5. doi: 10.1097/01.mpg.0000153005.61234.28. PMID: 15861016
van der Horst-Schrivers AN, Wymenga AN, Links TP, Willemse PH, Kema IP, de Vries EG
Neuroendocrinology 2004;80 Suppl 1:28-32. doi: 10.1159/000080737. PMID: 15477713

Diagnosis

Gong C, Saborit C, Long X, Wang A, Zheng B, Chung H, Lewis SK, Krishnareddy S, Bhagat G, Green PHR, Kong XF
Clin Transl Gastroenterol 2023 Dec 1;14(12):e00639. doi: 10.14309/ctg.0000000000000639. PMID: 37753949Free PMC Article
Paldino G, Faienza MF, Cappa M, Pietrobattista A, Capalbo D, Valenzise M, Lampasona V, Cudini A, Carbone E, Pagliarosi O, Maggiore G, Salerno M, Betterle C, Fierabracci A
Front Immunol 2023;14:1172369. Epub 2023 Jun 30 doi: 10.3389/fimmu.2023.1172369. PMID: 37457714Free PMC Article
Naraev BG, Halland M, Halperin DM, Purvis AJ, OʼDorisio TM, Halfdanarson TR
Pancreas 2019 Sep;48(8):961-972. doi: 10.1097/MPA.0000000000001384. PMID: 31425482Free PMC Article
Varea V, de Carpi JM, Puig C, Alda JA, Camacho E, Ormazabal A, Artuch R, Gómez L
J Pediatr Gastroenterol Nutr 2005 May;40(5):561-5. doi: 10.1097/01.mpg.0000153005.61234.28. PMID: 15861016
Neldner KH, Hambidge KM, Walravens PA
Int J Dermatol 1978 Jun;17(5):380-7. doi: 10.1111/ijd.1978.17.5.380. PMID: 96035

Therapy

Naraev BG, Halland M, Halperin DM, Purvis AJ, OʼDorisio TM, Halfdanarson TR
Pancreas 2019 Sep;48(8):961-972. doi: 10.1097/MPA.0000000000001384. PMID: 31425482Free PMC Article
Ledochowski M, Widner B, Murr C, Sperner-Unterweger B, Fuchs D
Scand J Gastroenterol 2001 Apr;36(4):367-71. doi: 10.1080/003655201300051135. PMID: 11336160
van Praag HM
Suicide Life Threat Behav 1986 Summer;16(2):103-32. doi: 10.1111/j.1943-278x.1986.tb00348.x. PMID: 2428139
Neldner KH, Hambidge KM, Walravens PA
Int J Dermatol 1978 Jun;17(5):380-7. doi: 10.1111/ijd.1978.17.5.380. PMID: 96035
Nutr Rev 1974 Jun;32(6):170-3. doi: 10.1111/j.1753-4887.1974.tb06314.x. PMID: 4599862

Prognosis

Gong C, Saborit C, Long X, Wang A, Zheng B, Chung H, Lewis SK, Krishnareddy S, Bhagat G, Green PHR, Kong XF
Clin Transl Gastroenterol 2023 Dec 1;14(12):e00639. doi: 10.14309/ctg.0000000000000639. PMID: 37753949Free PMC Article
Enko D, Wagner H, Kriegshäuser G, Brandmayr W, Halwachs-Baumann G, Schnedl WJ, Zelzer S, Mangge H, Meinitzer A
Psychiatry Res 2018 Apr;262:595-599. Epub 2017 Sep 22 doi: 10.1016/j.psychres.2017.09.049. PMID: 28965810
Di Sabatino A, Giuffrida P, Vanoli A, Luinetti O, Manca R, Biancheri P, Bergamaschi G, Alvisi C, Pasini A, Salvatore C, Biagi F, Solcia E, Corazza GR
Am J Gastroenterol 2014 Feb;109(2):258-69. Epub 2014 Jan 7 doi: 10.1038/ajg.2013.426. PMID: 24394748
van der Horst-Schrivers AN, Wymenga AN, Links TP, Willemse PH, Kema IP, de Vries EG
Neuroendocrinology 2004;80 Suppl 1:28-32. doi: 10.1159/000080737. PMID: 15477713
Neldner KH, Hambidge KM, Walravens PA
Int J Dermatol 1978 Jun;17(5):380-7. doi: 10.1111/ijd.1978.17.5.380. PMID: 96035

Clinical prediction guides

Gong C, Saborit C, Long X, Wang A, Zheng B, Chung H, Lewis SK, Krishnareddy S, Bhagat G, Green PHR, Kong XF
Clin Transl Gastroenterol 2023 Dec 1;14(12):e00639. doi: 10.14309/ctg.0000000000000639. PMID: 37753949Free PMC Article
Paldino G, Faienza MF, Cappa M, Pietrobattista A, Capalbo D, Valenzise M, Lampasona V, Cudini A, Carbone E, Pagliarosi O, Maggiore G, Salerno M, Betterle C, Fierabracci A
Front Immunol 2023;14:1172369. Epub 2023 Jun 30 doi: 10.3389/fimmu.2023.1172369. PMID: 37457714Free PMC Article
Renga G, Bellet MM, Stincardini C, Pariano M, Oikonomou V, Villella VR, Brancorsini S, Clerici C, Romani L, Costantini C
Front Immunol 2019;10:2844. Epub 2019 Dec 5 doi: 10.3389/fimmu.2019.02844. PMID: 31867008Free PMC Article
Enko D, Wagner H, Kriegshäuser G, Brandmayr W, Halwachs-Baumann G, Schnedl WJ, Zelzer S, Mangge H, Meinitzer A
Psychiatry Res 2018 Apr;262:595-599. Epub 2017 Sep 22 doi: 10.1016/j.psychres.2017.09.049. PMID: 28965810
Bazzichi L, Palego L, Giannaccini G, Rossi A, De Feo F, Giacomelli C, Betti L, Giusti L, Mascia G, Bombardieri S, Lucacchini A
Clin Biochem 2009 Jul;42(10-11):1064-70. Epub 2009 Mar 10 doi: 10.1016/j.clinbiochem.2009.02.025. PMID: 19281806

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