Glycogen Storage Disease II

Alternative Names

  • GSD II
  • GSD2
  • Acid Alpha-Glucosidase Deficiency
  • GAA Deficiency
  • Pompe Disease
  • Glycogenosis, Generalized, Cardiac Form
  • Cardiomegalia Glycogenica Diffusa
  • Acid Maltase Deficiency
  • AMD
  • Alpha-1,4-Glucosidase Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

232300

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17q25.3

Description

Pompe Disease is a rare and fatal genetic disorder of glycogen storage, characterized by low levels of the alpha glucosidase (GAA) enzyme. The symptoms and severity of the disease vary according to the amount of deficiency of GAA. Early onset or infantile Pompe disease is the most severe form of the condition, and is characterized by almost complete deficiency (<1% activity) of the enzyme. As of now, no specific treatment is available for Pompe disease. Treatment is mostly supportive and symptomatic. Clinical trials have been performed for an enzyme replacement therapy, and it shows promise for the immediate future.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
232300.1.1United Arab EmiratesMaleYesYesNM_000152.4:c.1327-2A>GHomozygousAutosomal, RecessiveHamdan et al. 2008 Pompe disease; Died ...
232300.1.2United Arab EmiratesMaleYesYes Ventricular hypertrophyNM_000152.4:c.1327-2A>GHomozygousAutosomal, RecessiveHamdan et al. 2008 Sibling of 232300.1....
232300.2United Arab EmiratesMaleNo Hypertrophic cardiomyopathyNM_000152.4:c.1327-2A>GHomozygousAutosomal, RecessiveHamdan et al. 2010 Pompe disease; poor ...
232300.3United Arab EmiratesFemaleYesNM_000152.3:c.340_341insTHomozygousAutosomal, RecessiveHamdan et al. 2010 Pompe disease; older...
232300.4LebanonMaleYesYes Microcephaly; Hypodontia; Delayed spee...NM_000152.4:c.266G>AHomozygousAutosomal, DominantNair et al. 2018 Patient has affected...
232300.5Lebanon Cardiomegaly; Death in infancy; Abnorm...NM_000152.3:c.935T>GHomozygousAutosomal, RecessiveHermans et al. 2004
232300.6Palestine Cardiomegaly; Death in infancy; Abnorm...NM_000152.3:c.340_341insTHomozygousAutosomal, RecessiveHermans et al. 2004
232300.7LebanonMaleYesNo Dark urine; Recurrent respiratory infect...NM_000152.4:c.670C>T, NM_000152.4:c.1064T>CHeterozygousAutosomal, RecessiveZouheir Habbal et al, 2013 Patient with both Po...
232300.8PalestineUnknownNM_000152.3:c.340_341insTHomozygousAutosomal, RecessiveAli et al. 2011
232300.9United Arab Emirates CardiomyopathyNM_000152.4:c.1327-2A>GHomozygousAutosomal, RecessiveAl-Jasmi et al. 2013
232300.11United Arab EmiratesFemaleNoYes Global developmental delay; HypotoniaNM_000152.4:c.2015G>AHomozygousAutosomal, RecessiveSaleh et al. 2021
232300.G.1Palestine CardiomyopathyNM_000152.3:c.340_341insTHomozygousAutosomal, RecessiveAl-Jasmi et al. 2013 2 palestinian patien...

Other Reports

Iraq

See Palestine > Bashan et al, 1988

Oman

Venugopalan et al. (2002) reported a case of type II glycogen storage disorder (Pompe disease) who presented with cardiac failure. The patient was a three month old Omani baby born to consanguineous parents. 

Palestine

Bashan et al. (1988) conducted a retrospective study on 18 patients with alpha-glucosidase deficiency who have been diagnosed during a period of 15 years. All patients were Palestinian Arabs, with the exception of two siblings from a Jewish Iraqi family.

Fathalla and Ahmed (2013) reported a two-month-old Palestinian patient with infantile Pompe disease. Her parents were consanguineous. She presented with hypertrophic cardiomyopathy, hypotonia, and mild hepatomegaly and was diagnosed by enzyme assay using dried blood spot. She was started on enzyme replacement therapy (ERT) but died of cardiac failure prior to receiving the second dose of ERT.

Saudi Arabia

Moammar et al. (2010) reviewed all patients diagnosed with inborn errors of metabolism (IEM) from 1983 to 2008 at Saudi Aramco medical facilities in the Eastern province of Saudi Arabia. During the study period, 165530 Saudi infants were born, of whom a total of 248 newborns were diagnosed with 55 IEM. Among GSD cases in this cohort, 3 cases from a single family were found to have GSD II.  The estimated incidence of GSD IA in this cohort was 2 in 100,000 live births. 

United Arab Emirates

Fathalla and Ahmed (2013) reported three Emirati patients —two males and a female—with infantile Pompe disease. Patients’ parents were consanguineous. Two patients were related; they both had causative homozygous mutation inherited in an autosomal recessive manner. Significant cardiac response was noted in all three patients with enzyme replacement therapy (ERT). The third patient was put on ventilator after he experienced viral-induced respiratory failure upon receiving first dose of ERT at 8-months of age and died at age 5.

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