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glykogenóza, typ I

  1. Record numberd005953
    Date06.06.2025
    TypeM
    Topical termglykogenóza, typ I
    Other termEnglish (Pseudonym) Glucose-6-Phosphatase Deficiency
    English (Pseudonym) Glucosephosphatase Deficiency
    English (Pseudonym) Glycogenosis 1
    English (Pseudonym) Hepatorenal Glycogen Storage Disease
    English (Pseudonym) von Gierke Disease
    Slovak (Pseudonym) choroba z ukladania glykogénu, typ I
    Slovak (Pseudonym) deficit glukóza-6-fosfatázy
    Slovak (Pseudonym) deficit glukózafosfatázy
    Slovak (Pseudonym) glykogenóza 1
    Slovak (Pseudonym) choroba z ukladania glykogénu, hepatorenálna
    Slovak (Pseudonym) glykogenóza hepatorenálna
    Slovak (Pseudonym) von Gierkeho choroba
    UDCC16.320.565.202.449.448C18.452.648.202.449.448
    NoteAn autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
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