UniProt ID | Protein Name | Source |
---|---|---|
P09622 | Dihydrolipoyl dehydrogenase, mitochondrial |
UniProt ID | Protein Name | Source |
---|---|---|
O35855 | Branched-chain-amino-acid aminotransferase, mitochondrial |
HPO ID | HPO Term |
---|---|
HP:0002480 | Hepatic encephalopathy |
HP:0001399 | Hepatic failure |
HP:0011968 | Feeding difficulties |
HP:0001251 | Ataxia |
HP:0003394 | Muscle spasm |
HP:0001987 | Hyperammonemia |
HP:0000708 | Atypical behavior |
HP:0002151 | Increased circulating lactate concentration |
HP:0008344 | Elevated circulating branched chain amino acid concentration |
HP:0001257 | Spasticity |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: April 7, 2025