glycogen storage disease VI

Term ID

DOID:2754

Synonyms

• Glycogen storage disease 6
• glycogen storage disease type VI
• hepatic glycogen phosphorylase deficiency
• hepatophosphorylase deficiency glycogenosis
• Hers' disease

Definition

A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. (4)

References

• ICD10CM:E74.09
• MESH:D006013
• MIM:232700
• NCI:C126875
• ORDO:369
• SNOMEDCT_US_2023_03_01:29291001
• UMLS_CUI:C0017925

Ontology

Human Disease   ( DOID:2754 )