Academic Journal
View in EDS
HTML Full Text

A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report.

Bibliographic Details
Title: A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report.
Authors: Santoro, Lucia, Pjetraj, Dorina, Velmishi, Virtut, Campana, Carmen, Catassi, Carlo, Dionisi-Vici, Carlo, Maiorana, Arianna
Source: Italian Journal of Pediatrics; 3/4/2022, Vol. 48 Issue 1, p1-5, 5p
Subject Terms: EPILEPSY prevention, ANTICONVULSANTS, KETOGENIC diet, RHABDOMYOLYSIS, SKELETAL muscle, NEURONS, LYASES, TREATMENT effectiveness, GLYCOGEN storage disease, SEIZURES (Medicine), PATIENT compliance, PHENOTYPES, ADOLESCENCE
Abstract: Background: Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. In the very few cases described, rhabdomyolysis crises are caused by fever and/or exercise and can accompany acute hemolytic anemia. Although currently there is no therapy available for this disease, the guidelines for the management of other forms of glycogen storage diseases recommend a nutritional therapy in order to avoid hypoglycemia or prevent exercise-induced rhabdomyolysis. Case presentation: In this case report we describe a new phenotype of the disease in a 14-year-old boy, characterized by seizures and rhabdomyolysis. Beside an antiepileptic treatment, we propose a new therapeutic approach based on ketogenic diet in order to supply an energetic substrate for skeletal muscle and neurons. Conclusions: The anti-epileptic therapy and the dietetic approach were well tolerated by the patient who showed good compliance. This led to a deceleration of the disease with no other acute episodes of seizures and rhabdomyolysis, without any side effects observed. [ABSTRACT FROM AUTHOR]
Copyright of Italian Journal of Pediatrics is the property of BioMed Central and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Complementary Index
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
CustomLinks:
  – Url: https://resolver.ebsco.com/c/xy5jbn/result?sid=EBSCO:edb&genre=article&issn=17208424&ISBN=&volume=48&issue=1&date=20220304&spage=1&pages=1-5&title=Italian Journal of Pediatrics&atitle=A%20new%20phenotype%20of%20aldolase%20a%20deficiency%20in%20a%2014%20year-old%20boy%20with%20epilepsy%20and%20rhabdomyolysis%20%E2%80%93%20case%20report.&aulast=Santoro%2C%20Lucia&id=DOI:10.1186/s13052-022-01228-3
    Name: Full Text Finder (for New FTF UI) (s8985755)
    Category: fullText
    Text: Find It @ SCU Libraries
    MouseOverText: Find It @ SCU Libraries
Header DbId: edb
DbLabel: Complementary Index
An: 155624959
RelevancyScore: 938
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 937.570495605469
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Santoro%2C+Lucia%22">Santoro, Lucia</searchLink><br /><searchLink fieldCode="AR" term="%22Pjetraj%2C+Dorina%22">Pjetraj, Dorina</searchLink><br /><searchLink fieldCode="AR" term="%22Velmishi%2C+Virtut%22">Velmishi, Virtut</searchLink><br /><searchLink fieldCode="AR" term="%22Campana%2C+Carmen%22">Campana, Carmen</searchLink><br /><searchLink fieldCode="AR" term="%22Catassi%2C+Carlo%22">Catassi, Carlo</searchLink><br /><searchLink fieldCode="AR" term="%22Dionisi-Vici%2C+Carlo%22">Dionisi-Vici, Carlo</searchLink><br /><searchLink fieldCode="AR" term="%22Maiorana%2C+Arianna%22">Maiorana, Arianna</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: Italian Journal of Pediatrics; 3/4/2022, Vol. 48 Issue 1, p1-5, 5p
– Name: Subject
  Label: Subject Terms
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22EPILEPSY+prevention%22">EPILEPSY prevention</searchLink><br /><searchLink fieldCode="DE" term="%22ANTICONVULSANTS%22">ANTICONVULSANTS</searchLink><br /><searchLink fieldCode="DE" term="%22KETOGENIC+diet%22">KETOGENIC diet</searchLink><br /><searchLink fieldCode="DE" term="%22RHABDOMYOLYSIS%22">RHABDOMYOLYSIS</searchLink><br /><searchLink fieldCode="DE" term="%22SKELETAL+muscle%22">SKELETAL muscle</searchLink><br /><searchLink fieldCode="DE" term="%22NEURONS%22">NEURONS</searchLink><br /><searchLink fieldCode="DE" term="%22LYASES%22">LYASES</searchLink><br /><searchLink fieldCode="DE" term="%22TREATMENT+effectiveness%22">TREATMENT effectiveness</searchLink><br /><searchLink fieldCode="DE" term="%22GLYCOGEN+storage+disease%22">GLYCOGEN storage disease</searchLink><br /><searchLink fieldCode="DE" term="%22SEIZURES+%28Medicine%29%22">SEIZURES (Medicine)</searchLink><br /><searchLink fieldCode="DE" term="%22PATIENT+compliance%22">PATIENT compliance</searchLink><br /><searchLink fieldCode="DE" term="%22PHENOTYPES%22">PHENOTYPES</searchLink><br /><searchLink fieldCode="DE" term="%22ADOLESCENCE%22">ADOLESCENCE</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: Glycogen storage disease type XII is a rare metabolic disease resulting from Aldolase A deficiency that causes muscle glycogen accumulation, with crisis of rhabdomyolysis and hemolytic anemia. In the very few cases described, rhabdomyolysis crises are caused by fever and/or exercise and can accompany acute hemolytic anemia. Although currently there is no therapy available for this disease, the guidelines for the management of other forms of glycogen storage diseases recommend a nutritional therapy in order to avoid hypoglycemia or prevent exercise-induced rhabdomyolysis. Case presentation: In this case report we describe a new phenotype of the disease in a 14-year-old boy, characterized by seizures and rhabdomyolysis. Beside an antiepileptic treatment, we propose a new therapeutic approach based on ketogenic diet in order to supply an energetic substrate for skeletal muscle and neurons. Conclusions: The anti-epileptic therapy and the dietetic approach were well tolerated by the patient who showed good compliance. This led to a deceleration of the disease with no other acute episodes of seizures and rhabdomyolysis, without any side effects observed. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label:
  Group: Ab
  Data: <i>Copyright of Italian Journal of Pediatrics is the property of BioMed Central and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://login.libproxy.scu.edu/login?url=https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&scope=site&db=edb&AN=155624959
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13052-022-01228-3
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 5
        StartPage: 1
    Subjects:
      – SubjectFull: EPILEPSY prevention
        Type: general
      – SubjectFull: ANTICONVULSANTS
        Type: general
      – SubjectFull: KETOGENIC diet
        Type: general
      – SubjectFull: RHABDOMYOLYSIS
        Type: general
      – SubjectFull: SKELETAL muscle
        Type: general
      – SubjectFull: NEURONS
        Type: general
      – SubjectFull: LYASES
        Type: general
      – SubjectFull: TREATMENT effectiveness
        Type: general
      – SubjectFull: GLYCOGEN storage disease
        Type: general
      – SubjectFull: SEIZURES (Medicine)
        Type: general
      – SubjectFull: PATIENT compliance
        Type: general
      – SubjectFull: PHENOTYPES
        Type: general
      – SubjectFull: ADOLESCENCE
        Type: general
    Titles:
      – TitleFull: A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Santoro, Lucia
      – PersonEntity:
          Name:
            NameFull: Pjetraj, Dorina
      – PersonEntity:
          Name:
            NameFull: Velmishi, Virtut
      – PersonEntity:
          Name:
            NameFull: Campana, Carmen
      – PersonEntity:
          Name:
            NameFull: Catassi, Carlo
      – PersonEntity:
          Name:
            NameFull: Dionisi-Vici, Carlo
      – PersonEntity:
          Name:
            NameFull: Maiorana, Arianna
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 04
              M: 03
              Text: 3/4/2022
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-print
              Value: 17208424
          Numbering:
            – Type: volume
              Value: 48
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Italian Journal of Pediatrics
              Type: main
ResultId 1