Pyruvate Metabolism, Inborn Errors [vrozené poruchy metabolismu pyruvátu]

topical
6
Terms

pyruváty - vrozené poruchy metabolismu

Persistent link   https://www.medvik.cz/link/D015323
Definition

Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.

DUI
D015323 MeSH Browser
CUI
M0023592
Previous indexing
Carbohydrate Metabolism, Inborn Errors (1966-1988); Pyruvates (1966-1988)
History note
89
Public note
89

C Diseases
C16.320.565.202.303 Fucosidosis 2
C16.320.565.202.355 Galactosemias 44
C16.320.565.202.449 Glycogen Storage Disease 44
C16.320.565.202.460 Hyperoxaluria, Primary 9
C16.320.565.202.589 Lactose Intolerance 132
C16.320.565.202.607 Mannosidase Deficiency Diseases 1
C16.320.565.202.670 Mucolipidoses 10
C16.320.565.202.715 Mucopolysaccharidoses 81
C16.320.565.202.810.444 Leigh Disease 26
C18.452 Metabolic Diseases 1 196
C18.452.648.202.303 Fucosidosis 2
C18.452.648.202.355 Galactosemias 44
C18.452.648.202.449 Glycogen Storage Disease 44
C18.452.648.202.460 Hyperoxaluria, Primary 9
C18.452.648.202.589 Lactose Intolerance 132
C18.452.648.202.607 Mannosidase Deficiency Diseases 1
C18.452.648.202.670 Mucolipidoses 10
C18.452.648.202.715 Mucopolysaccharidoses 81
C18.452.648.202.810.444 Leigh Disease 26