Počet záznamov: 1
glykogenóza, typ I
Č. záznamu d005953 Dátum 06.06.2025 Typ M Tematický termín glykogenóza, typ I Iný termín Angličtina (Pseudonym) Glucose-6-Phosphatase Deficiency
Angličtina (Pseudonym) Glucosephosphatase Deficiency
Angličtina (Pseudonym) Glycogenosis 1
Angličtina (Pseudonym) Hepatorenal Glycogen Storage Disease
Angličtina (Pseudonym) von Gierke Disease
Slovenčina (Pseudonym) choroba z ukladania glykogénu, typ I
Slovenčina (Pseudonym) deficit glukóza-6-fosfatázy
Slovenčina (Pseudonym) deficit glukózafosfatázy
Slovenčina (Pseudonym) glykogenóza 1
Slovenčina (Pseudonym) choroba z ukladania glykogénu, hepatorenálna
Slovenčina (Pseudonym) glykogenóza hepatorenálna
Slovenčina (Pseudonym) von Gierkeho choroba
MDT C16.320.565.202.449.448C18.452.648.202.449.448 Poznámka An 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. 
predmetové heslo
Počet záznamov: 1