Glycogen storage disease type VI

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Manpreet Kaur, MD [2], Anmol Pitliya, M.B.B.S. M.D.[3]

Synonyms and Keywords: Her's disease; phosphorylase deficiency glycogen-storage disease of liver; glycogen storage disease type 6; GSD IV; GSD type 6

Overview

Glycogen storage type disease VI is caused by the deficiency of phosphorylase B kinase. In 1959, Dr. Hers first discovered glycogen storage type VI disease in the patients with liver phosphorylase deficiency. Glycogen storage type disease VI is an autosomal recessive disease and some forms are X-linked recessive. Glycogen storage disease type VI is classified according to the pattern of inheritance associated with the enzyme deficiency into 2 subtypes, autosomal recessive liver phosphorylase kinase deficiency and x-linked recessive liver phosphorylase kinase deficiency. Glycogen storage disease type VI presents at the age of 1-5 years. A positive history of the protuberant abdomen, growth retardation and the slight delay in motor milestones is suggestive of glycogen storage disease type VI and some children have the history of mild fasting hypoglycemia and hypotonia.Patient with the glycogen storage disease type VI presents with the symptoms of hypoglycemia on fasting, such as faintness, weakness, and nervousness. On physical examination, the increased liver span is present. The mainstay of treatment is the dietary therapy which includes frequent meals, high carbohydrate diet, high protein diet and supplementation of unsaturated fats.

Historical Perspective

  • In 1959, Dr. Hers first discovered glycogen storage type disease VI in the patients with liver phosphorylase deficiency.[1]
  • In 1960, Stetten & Stetten described glycogen storage type disease VI disease after its initial discovery.[2]
  • In 1987, gene mutations encoding liver phosphorylase present on chromosome 14q21-q22 became known to be associated with the pathogenesis of glycogen storage type disease VI disease.[3]

Classification

Glycogen storage disease type VI is classified according to the pattern of inheritance associated with the enzyme deficiency into 2 subtypes:[4][5]


 
 
 
 
 
 
 
 
Glycogen storage disease type VI
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Autosomal recessive
liver phosphorylase kinase deficiency
 
 
 
 
 
X-linked recessive
liver phosphorylase kinase deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
X-linked recessive
liver phosphorylase kinase deficiency
classical type (type I)
 
 
 
X-linked recessive
liver phosphorylase kinase deficiency
variant type (type II)


Pathophysiology

Pathogenesis

Metabolic Pathway

Metabolic pathways showing defects in glycogen storage disease VI, (ɔ) Image courtesy of WikiDoc.org, by "Dr. Anmol Pitliya"

Causes

Differentiating Glycogen storage disease type VI from Other Diseases

Differentiating Glycogen Storage Diseases
Glycogen storage disease Enzyme deficiency Genetics History and symptoms Physical examination Laboratory findings Imaging Other features
Gene mutation Inheritance Chromosome Hypoglycemia Muscle weakness Hypotonia Hepatomegaly Elevated CK Cardiomegaly
Glycogen storage disease type I[11][12][13][14][15][16] Von Gierke's disease GSD type Ia Glucose-6-phosphatase G6PC gene mutation  Autosomal recessive 17q21 + + + + - -
GSD type Ib  Microsomal glucose-6-phosphate transporter  SLC37A4 gene mutation Autosomal recessive 11q23
Glycogen storage disease type II[17][18][19][20][21][22][23][24][25] Pompe disease Infantile onset Acid alpha-glucosidase GAA gene Autosomal recessive 17q25 - + + + + +
  • Elevated LDH
  • Elevated liver aminotransferases
  • Elevated urinary glc4
Late onset Autosomal recessive - + + + + +/-
Glycogen storage disease type III[26][27][28][29][30][31] Cori disease GSD type IIIa Debranching enzyme (deficiency in muscle and liver) AGL gene mutation  Autosomal recessive 1p21 + + + + + +
GSD type IIIb Debranching enzyme (deficiency in liver only) Autosomal recessive
Glycogen storage disease type IV[32][33][34][35][36] Andersen's disease Branching enzyme  GBE1 gene mutation Autosomal recessive 3p12 +/- + + + + + -
Glycogen storage disease type V[37][38][39][40][41][42][43] McArdle disease Muscle glycogen phosphorylase PYGM gene mutation Autosomal recessive 11q13 - + - - + -
Glycogen storage disease type VI[44][45][5][46][47] Hers' disease Autosomal Liver glycogen phosphorylase  PYGL gene mutation Autosomal recessive 14q22 +/- + +/- + - -
X-linked  PYGL gene mutation X-linked recessive X
Glycogen storage disease type VII[48][49][50][51][52][53] Tarui's disease Muscle phosphofructokinase PFKM gene mutation Autosomal recessive 12q13 + + - - + +
Glycogen storage disease type IX[54][45][55] GSD type IXa[56][4][57][58][59] Phosphorylase b kinase (deficiency in liver only) PHKA2 gene mutation X-linked recessive Xp22 + - - + - -
GSD type IXb[60][61][62] Phosphorylase b kinase (deficiency in liver and muscle) PHKB gene mutation Autosomal recessive 16q12 + - - + - -
Glycogen storage disease type X[63][64][65][66] Phosphoglycerate mutase PGAM2 gene mutation Autosomal recessive 7p13 - - - - + -
Glycogen storage disease type XI[67][68][69][70] Lactate dehydrogenase A deficiency Lactate dehydrogenase A LDHA gene mutation Autosomal recessive 11p15 - - - - + -
Glycogen storage disease type XII[71][72][73][74] Aldolase A deficiency Aldolase A ALDOA gene mutation Autosomal recessive 16p11 - + - + - -
Glycogen storage disease type XIII[75] Beta-enolase  ENO3 gene mutation Autosomal recessive 17p13 - + - - + - -
Glycogen storage disease type XIV[76][77] Phosphoglucomutase type 2 PGM1 gene mutation Autosomal recessive 1p31 +/- + - - + -
  • Elevated liver aminotransferases
Glycogen storage disease type 0[78][79][80][81] Lewis' disease Hepatic glycogen synthase GYS2 gene mutation (liver) Autosomal recessive 12p12 + - - - - -

Epidemiology and Demographics

  • The prevalence of glycogen storage type disease VI is approximately 1 per 100,000 individuals worldwide.
  • In the Mennonite population, the prevalence of glycogen storage type VI is 1 per 1000 individuals due to defect in founder variant.[46]
  • Glycogen storage type disease VI usually develops in early childhood.
  • Glycogen storage type disease VI affects individuals of the Mennonite religious group.
  • One of the forms of liver phosphorylase B kinase deficiency is X-linked recessive present in affected males, although asymptomatic males and heterozygous (carrier) females presents with mild symptoms. All other types of glycogen storage type disease VI is autosomal recessive affects men and women equally.

Risk Factors

The most potent risk factor in the development of glycogen storage disease type VI is a family member with glycogen storage disease type VI.

Screening

Natural History, Complications, and Prognosis

  • If left untreated, 1% of patients with glycogen storage disease type VI may progress to hepatocellular carcinoma.[45]
  • Other complications include cardiomyopathy.
  • Prognosis is generally excellent if symptoms are controlled with diet.

Diagnosis

Diagnostic Study of Choice

There are no established criteria for the diagnosis of glycogen storage disease type VI.

History and Symptoms

  • Glycogen storage disease type VI presents at the age of 1-5 years.
  • A positive history of the protuberant abdomen, growth retardation and the slight delay in motor milestones is suggestive of glycogen storage disease type VI.
  • Some children have the history of mild fasting hypoglycemia and hypotonia.
  • Common symptoms of glycogen storage disease type VI include:

Physical Examination

Laboratory Findings

Fasting test:

Electrocardiogram

There are no ECG findings associated with glycogen storage disease type VI.

X-ray

There are no X-ray findings associated with glycogen storage type VI disease.

Ultrasound

Ultrasound may be helpful in the diagnosis of glycogen storage disease type VI. Findings on an ultrasound suggestive of glycogen storage disease type VI include hepatomegaly.

CT scan

CT scan may be helpful in the diagnosis of glycogen storage disease type VI. Findings on CT scan suggestive of glycogen storage disease type VI is hepatomegaly.

MRI

MRI may be helpful in the diagnosis of glycogen storage disease type VI. Findings on MRI suggestive of glycogen storage disease type VI is hepatomegaly.

Other Imaging Findings

  • Other imaging studies can be in glycogen storage disease type VI is Bone scan

Other Diagnostic Studies

Molecular genetic testing

Molecular genetic testing is done under the following conditions :

Liver biopsy is reserved for those in whom the diagnosis cannot be confirmed by molecular genetic techniques.

Enzyme activity assay

Liver biopsy

The liver biopsy is helpful in the diagnosis of glycogen storage disease type VI.

Findings suggestive of glycogen storage disease type VI include:[83]

Treatment

Medical Therapy

Surgery

Surgical intervention is not recommended for the management of glycogen storage disease type VI.

Primary Prevention

Effective measures for primary prevention of glycogen storage disease type VI include:[86]

  • Genetic counseling: Genetic counseling should be offered to all parents with a child with GSD type VI.
  • Prenatal diagnosis: The preferred method for prenatal diagnosis is molecular testing when PGYL mutation is known. Mutation analysis is performed either on cultured chorionic villus samples or amniocytes.
  • Screening: The proband's PGYL mutations should be determined for diagnosis and direct further testing for family members.

Secondary Prevention

Effective measures for the secondary prevention of Her's disease include:

Surveillance:

  • Routine monitoring of blood glucose concentration and blood ketones is recommended especially for increased activity and illness.
  • Monitoring of blood ketones every morning and several times per month using a portable blood ketone meter is recommended. The goal is to maintain blood beta-hydroxybutyrate concentrations lower than 0.3 mmol/L.
  • Monitoring of blood glucose concentrations at 2 AM to 4 AM can predict the time of suboptimal control.
  • Height and weight should be measured to monitor growth every year.
  • Liver ultrasound examinations are recommended starts at age five years should be done every year.
  • Bone density measurement are recommended after growth is complete.

Agents to avoid:

References

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