Scribd Logo
Upload

Welcome to Scribd!

  • 111 views

    Glycogen Storage Deseases

    Uploaded by

    irsa
    Glycogen storage disease type IIIb is caused by a deficiency of the debranching enzyme in the liver needed to fully break down glycogen. This leads to hepatomegaly and hepatic symptoms in children such as hypoglycemia, hyperlipidemia, and elevated liver enzymes. The disease is inherited in an autosomal recessive pattern and results from mutations in the gene encoding the glycogen debranching enzyme, located on chromosome 1p21.

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd

    Glycogen Storage Deseases

    Uploaded by

    irsa
    111 views26 pages
    Glycogen storage disease type IIIb is caused by a deficiency of the debranching enzyme in the liver needed to fully break down glycogen. This leads to hepatomegaly and hepatic symptoms in children such as hypoglycemia, hyperlipidemia, and elevated liver enzymes. The disease is inherited in an autosomal recessive pattern and results from mutations in the gene encoding the glycogen debranching enzyme, located on chromosome 1p21.

    Original Description:

    GSD

    Copyright

    © © All Rights Reserved

    Available Formats

    PPT, PDF, TXT or read online from Scribd

    Did you find this document useful?

    Is this content inappropriate?

    Glycogen storage disease type IIIb is caused by a deficiency of the debranching enzyme in the liver needed to fully break down glycogen. This leads to hepatomegaly and hepatic symptoms in children such as hypoglycemia, hyperlipidemia, and elevated liver enzymes. The disease is inherited in an autosomal recessive pattern and results from mutations in the gene encoding the glycogen debranching enzyme, located on chromosome 1p21.

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
    111 views26 pages

    Glycogen Storage Deseases

    Uploaded by

    irsa
    Glycogen storage disease type IIIb is caused by a deficiency of the debranching enzyme in the liver needed to fully break down glycogen. This leads to hepatomegaly and hepatic symptoms in children such as hypoglycemia, hyperlipidemia, and elevated liver enzymes. The disease is inherited in an autosomal recessive pattern and results from mutations in the gene encoding the glycogen debranching enzyme, located on chromosome 1p21.

    Copyright:

    © All Rights Reserved
    Download as PPT, PDF, TXT or read online from Scribd
    Download as ppt, pdf, or txt
    of 26

    Glycogen Storage deseases

    Glycogen storage disease

    Case Description
    A female baby was delivered normally after an uncomplicated pregnancy. At the time of the infants second immunization, she became fussy and was seen by a pediatrician, where examination revealed an enlarged liver. The baby was referred to a gastroenterologist and later diagnosed to have Glycogen Storage Disease Type IIIB

    Glycogenoses
    Disorder
    Type 0 Type IA Type IB

    Affected Tissue
    Liver Liver, kidney, intestine Liver

    Enzyme
    Glycogen synthase Glucose-6-phosphatase Glucose-6-phosphate transporter (T1)

    Inheritance
    AR AR AR

    Gene
    GYS2[125] G6PC[96]
    ]

    Chromosome
    12p12.2[121] 17q21[13][94]

    G6PTI[57][104 11q23[2][81][104][155]

    Type IC

    Liver

    Phosphate transporter

    AR
    AGL AGL PYGL[26] PHKA2

    11q23.3-24.2[49][135]
    1p21[173] 1p21[173] 14q21-22[118] Xp22.1p22.2[40][68][162][165] 16q12-q13[54] 16p11.2-p12.1[28][101]

    Type IIIA Liver, muschle, heart Type IIIB Liver Type IV Type IX Liver Liver, erythrocytes, leukocytes Liver, muscle, erythrocytes, leukocytes Liver

    Glycogen debranching enzyme AR Glycogen debranching enzyme AR Glycogen phosphorylase AR Liver isoform of -subunit of X-Linked liver and muscle phosphorylase kinase -subunit of liver and muscle PK Testis/liver isoform of subunit of PK AR AR

    PHKB PHKG2

    Glycogen

    B-adrenergic receptor

    Regulation of Glycogen metabolism

    Glycogen Storage Diseases


    Type 0

    Type IV

    Type I Type VII Type II

    Glycogen Storage Disease Type IIIb


    Deficiency of debranching enzyme in the liver needed to completely break down glycogen to glucose Hepatomegaly and hepatic symptoms
    Usually subside with age

    Hypoglycemia, hyperlipidemia, and elevated liver transaminases occur in children

    GSD Type III

    Type III

    Debranching Enzyme
    Amylo-1,6-glucosidase
    Isoenzymes in liver, muscle and heart Transferase function Hydrolytic function

    Genetic Hypothesis
    The two forms of GSD Type III are caused by different mutations in the same structural Glycogen Debranching Enzyme gene

    Amylo-1,6-Glucosidase Gene
    The gene consists of 35 exons spanning at least 85 kbp of DNA The transcribed mRNA consists of a 4596 bp coding region and a 2371 bp non-coding region Type IIIa and IIIb are identical except for sequences in non-translated area The tissue isoforms differ at the 5 end

    Mutated Gene
    Approximately 16 different mutations identified Most mutations are nonsense One type caused by a missense mutation

    Where Mutation Occurs


    The GDE gene is located on chromosome 1p21, and contains 35 exons translated into a monomeric protein
    Exon 3 mutations are specific to the type IIIb, thus allowing for differentiation

    Inheritance
    Inborn errors of metabolism Autosomal recessive disorder Incidence estimated to be between 1:50,000 and 1:100,000 births per year in all ethnic groups Herling and colleagues studied incidence and frequency in British Columbia
    2.3 children per 100,000 births per year

    Inheritance
    Single variant in North African Jews in Israel shows both liver and muscle involvement (GSD IIIa)
    Incidence of 1:5400 births per year Carrier frequency is 1:35

    Inheritance
    G g

    GG

    Gg

    GG = normal Gg = carrier Gg = GSD

    Gg

    gg

    Both parents are carriers in the case.

    Inheritance
    normal carrier GSD Baby

    Clinical Features
    Common presentation
    Hepatomegaly and fibrosis in childhood Fasting hypoglycemia (40-50 mg/dl) Hyperlipidemia Growth retardation Elevated serum transaminase levels

    (aspartate aminotransferase and alanine aminotransferase > 500 units/ml)

    Clinical Features
    Less Common
    Splenomegaly Liver cirrhosis

    Galactosemia is an inherited disorder that affects the way the body breaks
    down certain sugars. Specifically, it affects the way the sugar called galactose is broken down. Galactose can be found in food by itself. A larger sugar called lactose, sometimes called milk sugar, is broken down by the body into galactose and glucose. The body uses glucose for energy. Because of the lack of the enzyme (galactose-1phosphate uridyl transferase) which helps the body break down the galactose, it then builds up and becomes toxic. In reaction to this build up of galactose the body makes some abnormal chemicals. The build up of galactose and the other chemicals can cause serious health problems like a swollen and inflamed liver, kidney failure, stunted physical and mental growth, and cataracts in the eyes. If the condition is not treated there is a 70% chance that the child could die.

    You might also like

    pFad - Phonifier reborn

    Pfad - The Proxy pFad of © 2024 Garber Painting. All rights reserved.

    Note: This service is not intended for secure transactions such as banking, social media, email, or purchasing. Use at your own risk. We assume no liability whatsoever for broken pages.


    Alternative Proxies:

    Alternative Proxy

    pFad Proxy

    pFad v3 Proxy

    pFad v4 Proxy