Phenotype: Abnormal CSF amino acid concentration (HP:0500184)
Associated genes and diseases:
gene_symbol: ASL
disease_id: OMIM:207900
disease_name: ARGININOSUCCINIC ACIDURIA
gene_symbol: DLD
disease_id: OMIM:246900
disease_name: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
gene_symbol: GLUL
disease_id: OMIM:610015
disease_name: GLUTAMINE DEFICIENCY, CONGENITAL
gene_symbol: GLUL
disease_id: OMIM:620806
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116
gene_symbol: PIGA
disease_id: OMIM:301072
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: ADK
disease_id: OMIM:614300
disease_name: HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
gene_symbol: GCH1
disease_id: OMIM:233910
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
gene_symbol: PSAT1
disease_id: OMIM:610992
disease_name: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY
gene_symbol: BOLA3
disease_id: OMIM:614299
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
gene_symbol: GCSH
disease_id: OMIM:620423
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: GLRX5
disease_id: OMIM:616859
disease_name: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA
gene_symbol: AMT
disease_id: OMIM:620398
disease_name: GLYCINE ENCEPHALOPATHY 2
gene_symbol: GLYCTK
disease_id: ORPHA:941
disease_name: D-glyceric aciduria
D-glycerate kinase deficiency
D-glyceric acidemia
gene_symbol: IBA57
disease_id: OMIM:615330
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
gene_symbol: LONP1
disease_id: ORPHA:79243
disease_name: Pyruvate dehydrogenase E1-alpha deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
gene_symbol: PDHA1
disease_id: ORPHA:79243
disease_name: Pyruvate dehydrogenase E1-alpha deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
gene_symbol: DLAT
disease_id: ORPHA:79244
disease_name: Pyruvate dehydrogenase E2 deficiency
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase complex component E2 deficiency
gene_symbol: PDHX
disease_id: ORPHA:255182
disease_name: Pyruvate dehydrogenase E3-binding protein deficiency
2-oxoglutarate complex deficiency
Branched chain alpha-ketoacid dehydrogenase complex deficiency
Diaphorase deficiency
Dihydrolipoyl dehydrogenase deficiency
Glycine cleavage system L protein deficiency
Lipoamide dehydrogenase deficiency
Pyruvate dehydrogenase complex component E3 deficiency
Pyruvate dehydrogenase protein X component deficiency
gene_symbol: MECP2
disease_id: ORPHA:778
disease_name: Rett syndrome
gene_symbol: PET117
disease_id: OMIM:619063
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19
gene_symbol: COXFA4
disease_id: OMIM:619065
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: PEX12
disease_id: OMIM:266510
disease_name: PEROXISOME BIOGENESIS DISORDER 3B