Decreased activity of the pyruvate dehydrogenase complex

Symptom Information:

Symptom ID: HPO:0002928
Synonyms:
Pyruvate dehydrogenase complex deficiency [HPO:0002928]
Decreased activity of the pyruvate dehydrogenase (PDH) complex [OMIM:Decreased activity of the pyruvate dehydrogenase (PDH) complex]
Pyruvate dehydrogenase complex deficiency [OMIM:Pyruvate dehydrogenase complex deficiency]
Decreased activity of the pyruvate dehydrogenase complex [OMIM:Decreased activity of the pyruvate dehydrogenase complex]
Decreased activity of the pyruvate dehydrogenase complex (PDH) [OMIM:Decreased activity of the pyruvate dehydrogenase complex (PDH)]
Decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls) [OMIM:Decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls)]
Quality:
Cross references:
OMIM: "Decreased activity of the pyruvate dehydrogenase (PDH) complex" [OMIM:Decreased activity of the pyruvate dehydrogenase (PDH) complex]
OMIM: "Pyruvate dehydrogenase complex deficiency" [OMIM:Pyruvate dehydrogenase complex deficiency]
OMIM: "Decreased activity of the pyruvate dehydrogenase complex" [OMIM:Decreased activity of the pyruvate dehydrogenase complex]
OMIM: "Decreased activity of the pyruvate dehydrogenase complex (PDH)" [OMIM:Decreased activity of the pyruvate dehydrogenase complex (PDH)]
OMIM: "Decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls)" [OMIM:Decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls)]
Is a (Direct Parents):
HPO         Abnormality of mitochondrial metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of cell physiology(HPO:0011017)
             Abnormality of the mitochondrion(HPO:0012103)
                Abnormality of mitochondrial metabolism(HPO:0003287)
                   Decreased activity of the pyruvate dehydrogenase complex(HPO:0002928)
MedDRA:
Database Frequency: 10 / 7739
Resource:

All diseases associated with this symptom:

Leigh syndrome (Orphanet:506)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E1-beta deficiency (Orphanet:255138)
Pyruvate dehydrogenase E2 deficiency (Orphanet:79244)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase lipoic acid synthetase deficiency (OMIM:614462)
Pyruvate dehydrogenase phosphatase deficiency (Orphanet:79246)
TRICARBOXYLIC ACID CYCLE, DEFECT OF (OMIM:275370)
[DEL] LEIGH SYNDROME, X-LINKED (OMIM:308930)