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Pyruvate metabolism disorder
MONDO:0016789An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.
Also known as: inborn error of pyruvate metabolic process, inborn pyruvate metabolic process disorder, rare inborn error of pyruvate metabolic process
31 clinical trials for this condition and its sub-types, 0 tagged with Pyruvate metabolism disorder itself.
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Sub-types of Pyruvate metabolism disorder
-
Disorder of glycolysis 1 trial · 27 incl. sub-types
16 sub-types
- Maturity-onset diabetes of the young 8 trials · 13 incl. sub-types Sub-types →
- Pyruvate kinase deficiency of red cells 10 trials
- Permanent neonatal diabetes mellitus 2 trials Sub-types →
- Glycogen storage disease VII 1 trial
- Glycogen storage disease due to aldolase A deficiency 1 trial
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 1 trial
- Glycogen storage disease due to muscle beta-enolase deficiency 1 trial
- Glycogen storage disease due to phosphoglycerate mutase deficiency 1 trial
- Charcot-Marie-Tooth disease type 4G 0 trials
- Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 0 trials
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 trials
- Hemolytic anemia due to glucophosphate isomerase deficiency 0 trials
- Hyperinsulinemic hypoglycemia, familial, 3 0 trials
- Lactic aciduria due to D-lactic acid 0 trials
- Non-spherocytic hemolytic anemia due to hexokinase deficiency 0 trials
- Triosephosphate isomerase deficiency 0 trials
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Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types
7 sub-types
- Pyruvate dehydrogenase E1-alpha deficiency 2 trials
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Lipoic acid synthetase deficiency 0 trials
- Pyruvate dehydrogenase E1-beta deficiency 0 trials
- Pyruvate dehydrogenase E2 deficiency 0 trials
- Pyruvate dehydrogenase E3-binding protein deficiency 0 trials
- Pyruvate dehydrogenase phosphatase deficiency 0 trials
-
Pyruvate kinase hyperactivity 0 trials
Most studied deeper sub-types
Maturity-onset diabetes of the young type 2
(4)
Maturity-onset diabetes of the young type 1
(1)
Maturity-onset diabetes of the young type 4
(1)
DEND syndrome
(0)
Developmental delay, epilepsy, and neonatal diabetes 1
(0)
Developmental delay, epilepsy, and neonatal diabetes 2
(0)
Diabetes mellitus, permanent neonatal 2
(0)
Diabetes mellitus, permanent neonatal 3
(0)
Diabetes mellitus, permanent neonatal 4
(0)
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
(0)
Intermediate DEND syndrome
(0)
Maturity-onset diabetes of the young type 10
(0)
Maturity-onset diabetes of the young type 11
(0)
Maturity-onset diabetes of the young, type 12
(0)
Maturity-onset diabetes of the young type 13
(0)
Maturity-onset diabetes of the young type 14
(0)
Maturity-onset diabetes of the young type 3
(0)
Maturity-onset diabetes of the young type 6
(0)
Maturity-onset diabetes of the young type 7
(0)
Maturity-onset diabetes of the young type 8
(0)
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