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  1. Article ; Online: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.

    Jasinge, Eresha / Fernando, Mihika / Indika, Neluwa-Liyanage R / Trunzo, Roberta / Schröder, Sabine / Vidanapathirana, Dinesha Maduri / Jones, Patricia M / Jayasena, Subashini / Gunarathne, Anusha Varuni / Ratnayake, Pyara

    Laboratory medicine

    2021  Volume 53, Issue 3, Page(s) e48–e50

    Abstract: Fumaric aciduria resulting from fumarate hydratase deficiency is a rare inherited disorder of the Krebs tricarboxylic acid cycle that is characterized by neurologic manifestations, a spectrum of brain abnormalities, and the excretion of fumaric acid in ... ...

    Abstract Fumaric aciduria resulting from fumarate hydratase deficiency is a rare inherited disorder of the Krebs tricarboxylic acid cycle that is characterized by neurologic manifestations, a spectrum of brain abnormalities, and the excretion of fumaric acid in urine. We describe a 3 year old Sri Lankan boy who was referred at age 10 months with poor weight gain and hypotonia for further laboratory investigations. In addition to global developmental delay, there were noticeable dysmorphic features with a prominent forehead, low-set ears, micrognathia, and hypertelorism with persistent neutropenia. Urine organic acid assay revealed a massive elevation of fumaric acid on 2 occasions. Molecular analysis revealed a homozygous likely pathogenic missense variant, NM000143.3:c.1048C>T p. (Arg350Trp), in the FH gene, confirming the biochemical diagnosis. Our patient was the first patient in Sri Lanka molecularly diagnosed with fumaric aciduria. This case study highlights the importance of performing organic acid assays in children presenting with neurologic manifestations especially when these are suspected to have a metabolic basis.
    MeSH term(s) Child ; Child, Preschool ; Diagnostic Tests, Routine ; Fumarate Hydratase/deficiency ; Fumarate Hydratase/genetics ; Fumarate Hydratase/metabolism ; Humans ; Infant ; Male ; Metabolism, Inborn Errors ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Psychomotor Disorders ; Sri Lanka
    Chemical Substances Fumarate Hydratase (EC 4.2.1.2)
    Language English
    Publishing date 2021-10-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 391758-7
    ISSN 1943-7730 ; 0007-5027
    ISSN (online) 1943-7730
    ISSN 0007-5027
    DOI 10.1093/labmed/lmab083
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 1013: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Corrigendum to: Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child.

    Jasinge, Eresha / Fernando, Mihika / Ruwan Indika, Neluwa-Liyanage / Trunzo, Roberta / Schröder, Sabine / Vidanapathirana, Dinesha Maduri / Jones, Patricia M / Jayasena, Subashini / Gunarathne, Anusha Varuni / Ratnayake, Pyara

    Laboratory medicine

    2021  Volume 53, Issue 3, Page(s) e62

    Language English
    Publishing date 2021-10-04
    Publishing country England
    Document type Published Erratum
    ZDB-ID 391758-7
    ISSN 1943-7730 ; 0007-5027
    ISSN (online) 1943-7730
    ISSN 0007-5027
    DOI 10.1093/labmed/lmab107
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 1013: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: Correction to: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report.

    Kularatnam, Grace Angeline Malarnangai / Warawitage, Hewa Dilanthi / Vidanapathirana, Dinesha Maduri / Jayasena, Subashini / Jasinge, Eresha / de Silva, Ginige Nalika Nirmalene / Liyanarachchi, Kirinda Liyana Arachchige Manoj Sanjeeva / Wickramasinghe, Pujitha / Devgun, Manjit Singh / Barbu, Veronique / Lascols, Olivier

    BMC research notes

    2017  Volume 10, Issue 1, Page(s) 492

    Abstract: Following publication of the original article [1], the authors requested the following corrections: 1. Author 2-given name should be Dilanthi and family name Warawitage. 2. Author 6-given name should be Nalika and family name de Silva. ...

    Abstract Following publication of the original article [1], the authors requested the following corrections: 1. Author 2-given name should be Dilanthi and family name Warawitage. 2. Author 6-given name should be Nalika and family name de Silva.
    Language English
    Publishing date 2017-10-05
    Publishing country England
    Document type Journal Article ; Published Erratum
    ZDB-ID 2413336-X
    ISSN 1756-0500 ; 1756-0500
    ISSN (online) 1756-0500
    ISSN 1756-0500
    DOI 10.1186/s13104-017-2815-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report.

    Kularatnam, Grace Angeline Malarnangai / Warawitage, Dilanthi / Vidanapathirana, Dinesha Maduri / Jayasena, Subashini / Jasinge, Eresha / de Silva, Nalika / Liyanarachchi, Kirinda Liyana Arachchige Manoj Sanjeeva / Wickramasinghe, Pujitha / Devgun, Manjit Singh / Barbu, Veronique / Lascols, Olivier

    BMC research notes

    2017  Volume 10, Issue 1, Page(s) 487

    Abstract: Background: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin-Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma ... ...

    Abstract Background: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy are rare chronic liver disorders. Dubin-Johnson syndrome may manifest as conjugated hyperbilirubinemia, darkly pigmented liver, presence of abnormal pigment in the parenchyma of hepatocytes and abnormal distribution of the coproporphyrin isomers I and III in the urine. Intrahepatic cholestatic jaundice of pregnancy presents as pruritus, abnormal liver biochemistry and increased serum bile acids.
    Case presentation: A Sri Lankan girl presented with recurrent episodes of jaundice. She had conjugated hyperbilirubinaemia with diffuse, coarse brown pigments in the hepatocytes. Urine coproporphyrin examination suggested Dubin-Johnson syndrome. Genetic studies confirmed missense homozygous variant p.Trp709Arg in the ATP-binding cassette sub-family C member 2 gene ABCC2 that encodes the Multidrug resistance-associated protein 2 that causes Dubin-Johnson syndrome. The gene study of the mother revealed the same missense variant in ABCC2/MRP2 but with a heterozygous status, and in addition a homozygous missense variant p.Val444Ala in the ATP-binding cassette, sub-family B member 11 gene ABCB11 that encodes the bile salt export pump.
    Conclusion: Dubin-Johnson syndrome should be considered when the common causes for conjugated hyperbilirubinaemia have been excluded, and patient has an increased percentage of direct bilirubin relative to total bilirubin concentration. Its early diagnosis prevents repeated hospital admissions and investigations. Knowledge of a well known homozygous variant in ABCB11 gene could help in the management of pregnancy.
    MeSH term(s) Base Sequence ; Biopsy ; Child, Preschool ; Cholestasis, Intrahepatic/complications ; Cholestasis, Intrahepatic/genetics ; Exons/genetics ; Family ; Female ; Hepatocytes/pathology ; Humans ; Jaundice, Chronic Idiopathic/complications ; Jaundice, Chronic Idiopathic/genetics ; Liver/pathology ; Pregnancy Complications/genetics ; Sequence Analysis, DNA ; Sri Lanka
    Language English
    Publishing date 2017-09-18
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 2413336-X
    ISSN 1756-0500 ; 1756-0500
    ISSN (online) 1756-0500
    ISSN 1756-0500
    DOI 10.1186/s13104-017-2811-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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