ErkrankungPyruvat-Dehydrogenase-Defizienz, Differentialdiagnose
Zusammenfassung
Umfassendes differentialdiagnostisches panel für Pyruvat-Dehydrogenase-Defizienz mit 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose
- (Erweitertes Panel)
- EDTA-Blut (3-5 ml)
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
BOLA3 | 324 | AR | |
DLAT | 1944 | AR | |
DLD | 1530 | AR | |
ECHS1 | 873 | AR | |
FBXL4 | 1866 | AR | |
GLRX5 | 474 | AR | |
HIBCH | 1161 | AR | |
IBA57 | 1071 | AR | |
ISCA1 | 415 | AR | |
ISCA2 | 183 | AR | |
LIAS | 990 | AR | |
LIPT1 | 1122 | AR | |
LIPT2 | 982 | AR | |
LONP1 | 2688 | AR | |
NFU1 | 765 | AR | |
PDHA1 | 1173 | XLD | |
PDHB | 1080 | AR | |
PDHX | 1506 | AR | |
PDP1 | 1689 | AR | |
SLC19A2 | 1494 | AR | |
SLC19A3 | 1491 | AR | |
SLC25A19 | 963 | AR | |
SLC25A26 | 1100 | AR | |
TPK1 | 585 | AR |
Infos zur Erkrankung
Seltene neurometabolische Störung, breites Spektrum klinischer Anzeichen, metabolische + neurologische Komponenten, unterschiedlicher Schweregrad; oft tödliche neonatale Laktatazidose oder später einsetzende neurologische Störungen; 6 Subtypen, die mit der betroffenen Untereinheit des PDH-Komplexes zusammenhängen, signifikante klinische Überlappung: PDHD aufgrund von E1-alpha-, E1-beta-, E2- und E3-Mangel, PDHD aufgrund eines Mangels an E3-bindendem Protein, PDH-Phosphatase-Mangel
- Alias: Ahornsirup-Krankheit, E3-defiziente (DLD)
- Alias: Dihydro-Lipoamid-Dehydrogenase-Mangel (DLD)
- Alias: Dihydrolipoamide dehydrogenase deficiency (DLD)
- 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCH)
- Anemia, sideroblastic, 3, pyridoxine-refractory (GLRX5)
- CODAS (cerebral, ocular, dental, auricular, skeletal anomalies) syndrome (LONP1)
- Charcot-Marie-Tooth disease, XLD, 6 (PDK3)
- Combined D-2- + L-2-hydroxyglutaric aciduria (SLC25A1)
- Combined oxidative phosphorylation deficiency 28 (SLC25A26)
- Encephalopathy, neonatal severe, with lactic acidosis + brain abnormalities (LIPT2)
- HARP syndrome (PANK2)
- Hyperglycinemia, lactic acidosis + seizures (LIAS)
- Lacticacidemia due to PDX1 deficiency (PDHX)
- Lipoyltransferase 1 deficiency (LIPT1)
- Microcephaly, Amish type (SLC24A19)
- Mitochondrial DNA depletion syndrome, encephalomyopathic type (FBXL4)
- Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1)
- Multiple mitochondrial dysfunctions syndrome 1 (NFU1)
- Multiple mitochondrial dysfunctions syndrome 3 (IBA57)
- Multiple mitochondrial dysfunctions syndrome 4 (ISCA2)
- Multiple mitochondrial dysfunctions syndrome 5 (ISCA1)
- Multiple mitochondrial dysfunctions syndrome 6 (PMPCB)
- Multiple mitochondrial dysfunctions syndrome with hyperglycinemia (BOLA3)
- Myasthenic syndrome, congenital, 23, presynaptic (SLC25A1)
- Neurodegeneration with brain iron accumulation 1 (PANK2)
- Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
- Pyruvate dehydrogenase E1-beta deficiency (PDHB)
- Pyruvate dehydrogenase E2 deficiency (DLAT)
- Pyruvate dehydrogenase phosphatase deficiency (PDP1)
- Spasticity, childhood-onset, with hyperglycinemia (GLRX5)
- Thiamine metabolism dysfunction syndrome 4, progressive polyneuropathy type (SLC25A19)
- Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (TPK1)
- Thiamine metabolism dysfunction syndrome, biotin/thiamine-responsive encephalopathy type2 (SLC19A3)
- Thiamine-responsive megaloblastic anemia syndrome (SLC19A2)
- AR
- XLD
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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