Cargando…

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

BACKGROUND: Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. We describe different case scenarios of 4 Sri Lankan patien...

Descripción completa

Detalles Bibliográficos
Autores principales: Jasinge, Eresha, Kularatnam, Grace Angeline Malarnangai, Dilanthi, Hewa Warawitage, Vidanapathirana, Dinesha Maduri, Jayasena, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike, Chandrasiri, Nambage Dona Priyani Dhammika, Indika, Neluwa Liyanage Ruwan, Ratnayake, Pyara Dilani, Gunasekara, Vindya Nandani, Fairbanks, Lynette Dianne, Stiburkova, Blanka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588617/
https://www.ncbi.nlm.nih.gov/pubmed/28877755
http://dx.doi.org/10.1186/s13104-017-2795-2
_version_ 1783262209794637824
author Jasinge, Eresha
Kularatnam, Grace Angeline Malarnangai
Dilanthi, Hewa Warawitage
Vidanapathirana, Dinesha Maduri
Jayasena, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike
Chandrasiri, Nambage Dona Priyani Dhammika
Indika, Neluwa Liyanage Ruwan
Ratnayake, Pyara Dilani
Gunasekara, Vindya Nandani
Fairbanks, Lynette Dianne
Stiburkova, Blanka
author_facet Jasinge, Eresha
Kularatnam, Grace Angeline Malarnangai
Dilanthi, Hewa Warawitage
Vidanapathirana, Dinesha Maduri
Jayasena, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike
Chandrasiri, Nambage Dona Priyani Dhammika
Indika, Neluwa Liyanage Ruwan
Ratnayake, Pyara Dilani
Gunasekara, Vindya Nandani
Fairbanks, Lynette Dianne
Stiburkova, Blanka
author_sort Jasinge, Eresha
collection PubMed
description BACKGROUND: Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. We describe different case scenarios of 4 Sri Lankan patients related to abnormal uric acid levels in blood and urine. CASE 1: A one-and-half-year-old boy was investigated for haematuria and a calculus in the bladder. Xanthine crystals were seen in microscopic examination of urine sediment. Low uric acid concentrations in serum and low urinary fractional excretion of uric acid associated with high urinary excretion of xanthine and hypoxanthine were compatible with xanthine oxidase deficiency. CASE 2: An 8-month-old boy presented with intractable seizures, feeding difficulties, screaming episodes, microcephaly, facial dysmorphism and severe neuro developmental delay. Low uric acid level in serum, low fractional excretion of uric acid and radiological findings were consistent with possible molybdenum cofactor deficiency. Diagnosis was confirmed by elevated levels of xanthine, hypoxanthine and sulfocysteine levels in urine. CASE 3: A 3-year-10-month-old boy presented with global developmental delay, failure to thrive, dystonia and self-destructive behaviour. High uric acid levels in serum, increased fractional excretion of uric acid and absent hypoxanthine–guanine phosphoribosyltransferase enzyme level confirmed the diagnosis of Lesch–Nyhan syndrome. CASE 4: A 9-year-old boy was investigated for lower abdominal pain, gross haematuria and right renal calculus. Low uric acid level in serum and increased fractional excretion of uric acid pointed towards hereditary renal hypouricaemia which was confirmed by genetic studies. CONCLUSION: Abnormal uric acid level in blood and urine is a valuable tool in screening for clinical conditions related to derangement of the nucleic acid metabolic pathway.
format Online
Article
Text
id pubmed-5588617
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-55886172017-09-14 Uric acid, an important screening tool to detect inborn errors of metabolism: a case series Jasinge, Eresha Kularatnam, Grace Angeline Malarnangai Dilanthi, Hewa Warawitage Vidanapathirana, Dinesha Maduri Jayasena, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike Chandrasiri, Nambage Dona Priyani Dhammika Indika, Neluwa Liyanage Ruwan Ratnayake, Pyara Dilani Gunasekara, Vindya Nandani Fairbanks, Lynette Dianne Stiburkova, Blanka BMC Res Notes Case Report BACKGROUND: Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism. We describe different case scenarios of 4 Sri Lankan patients related to abnormal uric acid levels in blood and urine. CASE 1: A one-and-half-year-old boy was investigated for haematuria and a calculus in the bladder. Xanthine crystals were seen in microscopic examination of urine sediment. Low uric acid concentrations in serum and low urinary fractional excretion of uric acid associated with high urinary excretion of xanthine and hypoxanthine were compatible with xanthine oxidase deficiency. CASE 2: An 8-month-old boy presented with intractable seizures, feeding difficulties, screaming episodes, microcephaly, facial dysmorphism and severe neuro developmental delay. Low uric acid level in serum, low fractional excretion of uric acid and radiological findings were consistent with possible molybdenum cofactor deficiency. Diagnosis was confirmed by elevated levels of xanthine, hypoxanthine and sulfocysteine levels in urine. CASE 3: A 3-year-10-month-old boy presented with global developmental delay, failure to thrive, dystonia and self-destructive behaviour. High uric acid levels in serum, increased fractional excretion of uric acid and absent hypoxanthine–guanine phosphoribosyltransferase enzyme level confirmed the diagnosis of Lesch–Nyhan syndrome. CASE 4: A 9-year-old boy was investigated for lower abdominal pain, gross haematuria and right renal calculus. Low uric acid level in serum and increased fractional excretion of uric acid pointed towards hereditary renal hypouricaemia which was confirmed by genetic studies. CONCLUSION: Abnormal uric acid level in blood and urine is a valuable tool in screening for clinical conditions related to derangement of the nucleic acid metabolic pathway. BioMed Central 2017-09-06 /pmc/articles/PMC5588617/ /pubmed/28877755 http://dx.doi.org/10.1186/s13104-017-2795-2 Text en © The Author(s) 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Jasinge, Eresha
Kularatnam, Grace Angeline Malarnangai
Dilanthi, Hewa Warawitage
Vidanapathirana, Dinesha Maduri
Jayasena, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike
Chandrasiri, Nambage Dona Priyani Dhammika
Indika, Neluwa Liyanage Ruwan
Ratnayake, Pyara Dilani
Gunasekara, Vindya Nandani
Fairbanks, Lynette Dianne
Stiburkova, Blanka
Uric acid, an important screening tool to detect inborn errors of metabolism: a case series
title Uric acid, an important screening tool to detect inborn errors of metabolism: a case series
title_full Uric acid, an important screening tool to detect inborn errors of metabolism: a case series
title_fullStr Uric acid, an important screening tool to detect inborn errors of metabolism: a case series
title_full_unstemmed Uric acid, an important screening tool to detect inborn errors of metabolism: a case series
title_short Uric acid, an important screening tool to detect inborn errors of metabolism: a case series
title_sort uric acid, an important screening tool to detect inborn errors of metabolism: a case series
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588617/
https://www.ncbi.nlm.nih.gov/pubmed/28877755
http://dx.doi.org/10.1186/s13104-017-2795-2
work_keys_str_mv AT jasingeeresha uricacidanimportantscreeningtooltodetectinbornerrorsofmetabolismacaseseries
AT kularatnamgraceangelinemalarnangai uricacidanimportantscreeningtooltodetectinbornerrorsofmetabolismacaseseries
AT dilanthihewawarawitage uricacidanimportantscreeningtooltodetectinbornerrorsofmetabolismacaseseries
AT vidanapathiranadineshamaduri uricacidanimportantscreeningtooltodetectinbornerrorsofmetabolismacaseseries
AT jayasenakandanaliyanagesubhashiniepriyadarshikakapilanimenike uricacidanimportantscreeningtooltodetectinbornerrorsofmetabolismacaseseries
AT chandrasirinambagedonapriyanidhammika uricacidanimportantscreeningtooltodetectinbornerrorsofmetabolismacaseseries
AT indikaneluwaliyanageruwan uricacidanimportantscreeningtooltodetectinbornerrorsofmetabolismacaseseries
AT ratnayakepyaradilani uricacidanimportantscreeningtooltodetectinbornerrorsofmetabolismacaseseries
AT gunasekaravindyanandani uricacidanimportantscreeningtooltodetectinbornerrorsofmetabolismacaseseries
AT fairbankslynettedianne uricacidanimportantscreeningtooltodetectinbornerrorsofmetabolismacaseseries
AT stiburkovablanka uricacidanimportantscreeningtooltodetectinbornerrorsofmetabolismacaseseries