| 词条 | Glycogen storage disease type IX |
| 释义 |
| name = Glycogen storage disease IX | image = Glycogen.svg | caption = Glycogen structure | | pronounce = | field = | synonyms = | symptoms = | complications = | onset = | duration = | types = | causes = Mutations in PHKA1, PHKA2, PHKB, or PHKG2 genes[1] | risks = | diagnosis = CBC, Urinalysis[2][3] | differential = | prevention = | treatment = Physical therapy, follow metabolic nutritionist[2] | medication = | prognosis = | frequency = | deaths = }}Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and skeletal muscle tissue. It is inherited in an X-linked or autosomal recessive manner.[1] Signs and symptomsThe signs and symptoms in glycogen storage disease type IX include:[1]
Most of these signs and symptoms diminish as adulthood sets in.[1] GeneticsGlycogen storage disease type IX can be inherited via:[2][3]
DiagnosisThe diagnosis of glycogen storage disease IX consists of the following:[1][5]
TypesThere are two types of this inherited condition, glycogen storage disease IXa1 and glycogen storage disease IXa2 that affect the liver of an individual.[6] Mutations in PHKA2 have been seen in individuals with glycogen storage disease IXa2.{{medical citation needed|date=August 2016}} ManagementThe management of Glycogen storage disease IX requires treatment of symptoms by frequent intake of complex carbohydrates and protein to combat the low blood sugar. A nutritionist will advise on suitable diets. Liver function is regularly monitored and problems managed as they arise. However, liver problems have only been successfully treated by a transplant. Routine checks of metabolism are needed to ensure blood sugar (glucose) and ketones are managed. Regular moderate exercise is beneficial, although over-vigorous exercise is to be avoided, especially in those with enlarged livers.[1][7] See also
References1. ^1 2 3 4 5 6 {{Cite book |url=https://www.ncbi.nlm.nih.gov/books/NBK55061/ |title=Phosphorylase Kinase Deficiency |last=Goldstein |first=Jennifer |last2=Austin |first2=Stephanie |last3=Kishnani |first3=Priya |last4=Bali |first4=Deeksha |date=1993 |publisher=University of Washington |location=Seattle (WA) |pmid=21634085 |editor-last1=Pagon |editor-first1=Roberta A |editor-last2=Adam |editor-first2=Margaret P |editor-last3=Ardinger |editor-first3=Holly H |editor-last4=Wallace |editor-first4=Stephanie E |editor-last5=Amemiya |editor-first5=Ann |editor-last6=Bean |editor-first6=Lora JH |editor-last7=Bird |editor-first7=Thomas D |editor-last8=Fong |editor-first8=Chin-To |editor-last9=Mefford |editor-first9=Heather C }} update 2011 2. ^1 {{Cite web |url=https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-ix#inheritance |title=Glycogen storage disease type IX |website=Genetics Home Reference |access-date=2016-08-06}} 3. ^{{Cite web |url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=370 |title=Glycogen storage disease due to phosphorylase kinase deficiency|website=Orphanet |access-date=2016-08-06}} 4. ^{{cite book |last1=Bernstein |first1=Laurie E |last2=Rohr |first2=Fran |last3=Helm |first3=Joanna R |title=Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University |publisher=Springer |isbn=9783319146218 |page=303 |url=https://books.google.co.uk/books?id=q1LMCQAAQBAJ&pg=PA303 |accessdate=6 August 2016 |date=2015-06-03 }} 5. ^1 {{cite web |title=Glycogen Storage Disorders. GSD information and treatment |url=http://patient.info/doctor/glycogen-storage-disorders-pro |date=21 August 2014 |last=Tidy |first=Colin |publisher=Patient Platform |accessdate=6 August 2016}} 6. ^{{Cite web |url=http://www.omim.org/entry/306000|title=Glycogen storage disease IX |website=OMIM |publisher=Johns Hopkins University |access-date=2016-08-06}} 7. ^{{cite book |last1=Fernandes |first1=John |last2=Saudubray |first2=Jean-Marie |last3=van den Berghe |first3=Georges |title=Inborn Metabolic Diseases: Diagnosis and Treatment |publisher=Springer Science & Business Media |isbn=9783662031476 |page=80 |url=https://books.google.co.uk/books?id=97zoCAAAQBAJ&pg=PA81 |accessdate=6 August 2016|date=2013-03-14 }} Further reading
External links
| DiseasesDB = | ICD10 = {{ICD10|E|74|09}} | ICD9 = | ICDO = | OMIM = 306000 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | GeneReviewsNBK = 55061 | GeneReviewsName= Phosphorylase Kinase Deficiency | MeshID = }}{{Medicine}}{{Carbohydrate metabolic pathology}} 1 : Genetic diseases and disorders |
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