Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn
To present clinical and laboratory findings in the case of a term newborn with conjugated hyperbilirubinaemia and to stress the importance of differential diagnosis. A term newborn delivered by caesarean section (birth weight 2550 g, birth length 47 cm, value of Apgar score 9/10) with good direct ad...
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| Veröffentlicht in: | Neuro-endocrinology letters 2009, Vol.30 Suppl 1, p.29-31 |
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| container_title | Neuro-endocrinology letters |
| container_volume | 30 Suppl 1 |
| creator | Brucknerova, Ingrid Behulova, Darina Sebova, Claudia Bzduch, Vladimir Mach, Mojmir Dubovicky, Michal Ujhazy, Eduard |
| description | To present clinical and laboratory findings in the case of a term newborn with conjugated hyperbilirubinaemia and to stress the importance of differential diagnosis.
A term newborn delivered by caesarean section (birth weight 2550 g, birth length 47 cm, value of Apgar score 9/10) with good direct adaptation had on the first day of life increased levels of conjugated bilirubin (23 micromol/l), unconjugated bilirubin (55 micromol/l) and C-reactive protein 39.4 g/l. The diagnosis of mevalonic aciduria was confirmed by urine analysis (mevalonolactone 393 micromol/mmol crea, normal range |
| format | Article |
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A term newborn delivered by caesarean section (birth weight 2550 g, birth length 47 cm, value of Apgar score 9/10) with good direct adaptation had on the first day of life increased levels of conjugated bilirubin (23 micromol/l), unconjugated bilirubin (55 micromol/l) and C-reactive protein 39.4 g/l. The diagnosis of mevalonic aciduria was confirmed by urine analysis (mevalonolactone 393 micromol/mmol crea, normal range <2.0 micromol/mmol crea; mevalonic acid 40.5 micromol/mmol crea, normal range <0.04 micromol/mmol crea).
Mevalonic aciduria can be clinically distinguished based on symptoms of neurological involvement. It can also present itself with hepatosplenomegaly, lymphadenopathy, anaemia, leukocytosis, increased sedimentation rates and levels of C-reactive protein. In cases of conjugated hyperbilirubinaemia of unknown aetiology it is important to exclude mevalonic aciduria by urine investigation for organic acids.</description><identifier>ISSN: 0172-780X</identifier><identifier>PMID: 20027140</identifier><language>eng</language><publisher>Sweden</publisher><subject>Diagnosis, Differential ; Humans ; Hyperbilirubinemia, Neonatal - diagnosis ; Hyperbilirubinemia, Neonatal - etiology ; Hyperbilirubinemia, Neonatal - urine ; Infant, Newborn ; Male ; Mevalonate Kinase Deficiency - complications ; Mevalonate Kinase Deficiency - diagnosis ; Mevalonate Kinase Deficiency - urine</subject><ispartof>Neuro-endocrinology letters, 2009, Vol.30 Suppl 1, p.29-31</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4024</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20027140$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Brucknerova, Ingrid</creatorcontrib><creatorcontrib>Behulova, Darina</creatorcontrib><creatorcontrib>Sebova, Claudia</creatorcontrib><creatorcontrib>Bzduch, Vladimir</creatorcontrib><creatorcontrib>Mach, Mojmir</creatorcontrib><creatorcontrib>Dubovicky, Michal</creatorcontrib><creatorcontrib>Ujhazy, Eduard</creatorcontrib><title>Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn</title><title>Neuro-endocrinology letters</title><addtitle>Neuro Endocrinol Lett</addtitle><description>To present clinical and laboratory findings in the case of a term newborn with conjugated hyperbilirubinaemia and to stress the importance of differential diagnosis.
A term newborn delivered by caesarean section (birth weight 2550 g, birth length 47 cm, value of Apgar score 9/10) with good direct adaptation had on the first day of life increased levels of conjugated bilirubin (23 micromol/l), unconjugated bilirubin (55 micromol/l) and C-reactive protein 39.4 g/l. The diagnosis of mevalonic aciduria was confirmed by urine analysis (mevalonolactone 393 micromol/mmol crea, normal range <2.0 micromol/mmol crea; mevalonic acid 40.5 micromol/mmol crea, normal range <0.04 micromol/mmol crea).
Mevalonic aciduria can be clinically distinguished based on symptoms of neurological involvement. It can also present itself with hepatosplenomegaly, lymphadenopathy, anaemia, leukocytosis, increased sedimentation rates and levels of C-reactive protein. In cases of conjugated hyperbilirubinaemia of unknown aetiology it is important to exclude mevalonic aciduria by urine investigation for organic acids.</description><subject>Diagnosis, Differential</subject><subject>Humans</subject><subject>Hyperbilirubinemia, Neonatal - diagnosis</subject><subject>Hyperbilirubinemia, Neonatal - etiology</subject><subject>Hyperbilirubinemia, Neonatal - urine</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Mevalonate Kinase Deficiency - complications</subject><subject>Mevalonate Kinase Deficiency - diagnosis</subject><subject>Mevalonate Kinase Deficiency - urine</subject><issn>0172-780X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE9LAzEUxHNQbK1-BcnN00I22W3SoxT_QcGLgrflZffFpmySNckq_fYGrGdP8xh-8xjmjCxZLXklFXtfkMuUDozxTcvFBVnwcsq6YUsC2-AP8wdkHOj-OGHUdrRx1tYDOgsUEs17pMbGlKkDbw2mDNkGT4OhDr9gDN72FHo7zLEErKdAM0ZHPX7rEP0VOTcwJrw-6Yq8Pdy_bp-q3cvj8_ZuV0284bnqawNqg8bgmg2qFQoF1MWsJbRr3RZTaux7brgaGi0lcCMNl4IJYUpIiRW5_f07xfA5l5ads6nHcQSPYU7dpm3WiknJ_yWlEK1ouGoKeXMiZ-1w6KZoHcRj97ef-AFrk201</recordid><startdate>2009</startdate><enddate>2009</enddate><creator>Brucknerova, Ingrid</creator><creator>Behulova, Darina</creator><creator>Sebova, Claudia</creator><creator>Bzduch, Vladimir</creator><creator>Mach, Mojmir</creator><creator>Dubovicky, Michal</creator><creator>Ujhazy, Eduard</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope><scope>7TK</scope></search><sort><creationdate>2009</creationdate><title>Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn</title><author>Brucknerova, Ingrid ; Behulova, Darina ; Sebova, Claudia ; Bzduch, Vladimir ; Mach, Mojmir ; Dubovicky, Michal ; Ujhazy, Eduard</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p242t-c1fa89effe60d8538e3a1c1f17a56b560d7becc2f28d4b77a2f7f273033fffe83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Diagnosis, Differential</topic><topic>Humans</topic><topic>Hyperbilirubinemia, Neonatal - diagnosis</topic><topic>Hyperbilirubinemia, Neonatal - etiology</topic><topic>Hyperbilirubinemia, Neonatal - urine</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Mevalonate Kinase Deficiency - complications</topic><topic>Mevalonate Kinase Deficiency - diagnosis</topic><topic>Mevalonate Kinase Deficiency - urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Brucknerova, Ingrid</creatorcontrib><creatorcontrib>Behulova, Darina</creatorcontrib><creatorcontrib>Sebova, Claudia</creatorcontrib><creatorcontrib>Bzduch, Vladimir</creatorcontrib><creatorcontrib>Mach, Mojmir</creatorcontrib><creatorcontrib>Dubovicky, Michal</creatorcontrib><creatorcontrib>Ujhazy, Eduard</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><jtitle>Neuro-endocrinology letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Brucknerova, Ingrid</au><au>Behulova, Darina</au><au>Sebova, Claudia</au><au>Bzduch, Vladimir</au><au>Mach, Mojmir</au><au>Dubovicky, Michal</au><au>Ujhazy, Eduard</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn</atitle><jtitle>Neuro-endocrinology letters</jtitle><addtitle>Neuro Endocrinol Lett</addtitle><date>2009</date><risdate>2009</risdate><volume>30 Suppl 1</volume><spage>29</spage><epage>31</epage><pages>29-31</pages><issn>0172-780X</issn><abstract>To present clinical and laboratory findings in the case of a term newborn with conjugated hyperbilirubinaemia and to stress the importance of differential diagnosis.
A term newborn delivered by caesarean section (birth weight 2550 g, birth length 47 cm, value of Apgar score 9/10) with good direct adaptation had on the first day of life increased levels of conjugated bilirubin (23 micromol/l), unconjugated bilirubin (55 micromol/l) and C-reactive protein 39.4 g/l. The diagnosis of mevalonic aciduria was confirmed by urine analysis (mevalonolactone 393 micromol/mmol crea, normal range <2.0 micromol/mmol crea; mevalonic acid 40.5 micromol/mmol crea, normal range <0.04 micromol/mmol crea).
Mevalonic aciduria can be clinically distinguished based on symptoms of neurological involvement. It can also present itself with hepatosplenomegaly, lymphadenopathy, anaemia, leukocytosis, increased sedimentation rates and levels of C-reactive protein. In cases of conjugated hyperbilirubinaemia of unknown aetiology it is important to exclude mevalonic aciduria by urine investigation for organic acids.</abstract><cop>Sweden</cop><pmid>20027140</pmid><tpages>3</tpages></addata></record> |
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| ispartof | Neuro-endocrinology letters, 2009, Vol.30 Suppl 1, p.29-31 |
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| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals |
| subjects | Diagnosis, Differential Humans Hyperbilirubinemia, Neonatal - diagnosis Hyperbilirubinemia, Neonatal - etiology Hyperbilirubinemia, Neonatal - urine Infant, Newborn Male Mevalonate Kinase Deficiency - complications Mevalonate Kinase Deficiency - diagnosis Mevalonate Kinase Deficiency - urine |
| title | Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn |
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