Increased serum pyruvate
Symptom Information:
| Symptom ID: | HPO:0003542 | ||
| Synonyms: |
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| Is a (Direct Parents): |
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| Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of metabolism/homeostasis(HPO:0001939) Abnormality of carbohydrate metabolism/homeostasis(HPO:0011013) Abnormality of glycolysis(HPO:0004366) Increased serum pyruvate(HPO:0003542) MedDRA: |
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| Database Frequency: | 18 / 7739 | ||
| Resource: |
All diseases associated with this symptom:
| ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY | (OMIM:614055) |
| Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
| GRACILE syndrome | (Orphanet:53693) |
| Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | (Orphanet:284426) |
| Glycogen storage disease due to lactate dehydrogenase deficiency | (Orphanet:2364) |
| Hereditary myopathy with lactic acidosis due to ISCU deficiency | (Orphanet:43115) |
| MERRF | (Orphanet:551) |
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 | (OMIM:615160) |
| MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | (OMIM:614741) |
| Mitochondrial myopathy - lactic acidosis - deafness | (Orphanet:2597) |
| Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | (Orphanet:254864) |
| Perrault Syndrome 5 | (OMIM:616138) |
| Pyruvate carboxylase deficiency | (Orphanet:3008) |
| Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
| Pyruvate dehydrogenase E3 deficiency | (Orphanet:2394) |
| Pyruvate dehydrogenase E3-binding protein deficiency | (Orphanet:255182) |
| Pyruvate dehydrogenase phosphatase deficiency | (Orphanet:79246) |
| Severe X-linked mitochondrial encephalomyopathy | (Orphanet:238329) |