Number of the records: 1
glykogenóza, typ IV
Record number d006011 Date 06.06.2025 Type M - MESH Topical term glykogenóza, typ IV Other term English (Pseudonym) Amylopectinosis
English (Pseudonym) Andersen Disease
English (Pseudonym) Brancher Deficiency
English (Pseudonym) Glycogenosis 4
Slovak (Pseudonym) choroba z ukladania glykogénu, typ IV
Slovak (Pseudonym) amylopektinóza
Slovak (Pseudonym) Andersenova choroba
Slovak (Pseudonym) deficit branchera
Slovak (Pseudonym) deficit vetviaceho enzýmu
Slovak (Pseudonym) glykogenóza 4
UDC C16.320.565.202.449.540C18.452.648.202.449.540 Note An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2. 
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Number of the records: 1