Number of the records: 1
glykogenóza, typ II
Record number d006009 Date 06.06.2025 Type M Topical term glykogenóza, typ II Other term English (Pseudonym) Acid Maltase Deficiency Disease
English (Pseudonym) Generalized Glycogenosis
English (Pseudonym) Glycogenosis 2
English (Pseudonym) Lysosomal alpha-1,4-Glucosidase Deficiency Disease
English (Pseudonym) Pompe Disease
Slovak (Pseudonym) choroba z ukladania glykogénu, typ II
Slovak (Pseudonym) choroba z deficitu kyslej maltázy
Slovak (Pseudonym) choroba z nedostatku kyslej maltázy
Slovak (Pseudonym) glykogenóza generalizovaná
Slovak (Pseudonym) glykogenóza 2
Slovak (Pseudonym) choroba z deficitu lyzozómovej alfa-1,4-glukozidázy
Slovak (Pseudonym) choroba z nedostatku lyzozómovej alfa-1,4-glukozidázy
Slovak (Pseudonym) Pompeho choroba
Slovak (Pseudonym) morbus Pompe
See also (Later heading) alfa-glukozidázy
(Later heading) glukán 1,4-alfa-glukozidáza
(Skutočné meno) glukán 1,4-alfa-glukozidáza
UDC C10.228.140.163.100.435.340C16.320.565.189.435.340C16.320.565.202.449.500C16.320.565.595.554.340C18.452.132.100.435.340C18.452.648.189.435.340C18.452.648.202.449.500C18.452.648.595.554.340 Note An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4) 
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Number of the records: 1