Počet záznamov: 1
glykogenóza, typ II
Č. záznamu d006009 Dátum 06.06.2025 Typ M Tematický termín glykogenóza, typ II Iný termín Angličtina (Pseudonym) Acid Maltase Deficiency Disease
Angličtina (Pseudonym) Generalized Glycogenosis
Angličtina (Pseudonym) Glycogenosis 2
Angličtina (Pseudonym) Lysosomal alpha-1,4-Glucosidase Deficiency Disease
Angličtina (Pseudonym) Pompe Disease
Slovenčina (Pseudonym) choroba z ukladania glykogénu, typ II
Slovenčina (Pseudonym) choroba z deficitu kyslej maltázy
Slovenčina (Pseudonym) choroba z nedostatku kyslej maltázy
Slovenčina (Pseudonym) glykogenóza generalizovaná
Slovenčina (Pseudonym) glykogenóza 2
Slovenčina (Pseudonym) choroba z deficitu lyzozómovej alfa-1,4-glukozidázy
Slovenčina (Pseudonym) choroba z nedostatku lyzozómovej alfa-1,4-glukozidázy
Slovenčina (Pseudonym) Pompeho choroba
Slovenčina (Pseudonym) morbus Pompe
Pozri tiež (Novšie záhlavie) alfa-glukozidázy
(Novšie záhlavie) glukán 1,4-alfa-glukozidáza
(Skutočné meno) glukán 1,4-alfa-glukozidáza
MDT 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 Poznámka 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) 
predmetové heslo
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