PEI001
Errores innatos del metabolismo
Evalúa causas monogénicas de alteraciones metabólicas y sus principales diferenciales tratables. Indicaciones: Descompensación metabólica, hiperamonemia, hipoglucemia, acidosis, organomegalia, olor inusual, alteración del tamiz neonatal o regresión con sospecha metabólica.
Ver genes propuestos
ABCD1, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADSL, AGA, AGXT, ALDH4A1, ALDH5A1, ALDH7A1, ALDOB, AMACR, AMT, ARG1, ARSA, ARSB, ASL, ASNS, ASS1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BTD, CBS, CPS1, CPT1A, CPT2, CTNS, CTSA, CYP27A1, DBT, DDC, DHCR7, DHDDS, DLD, DPAGT1, DPYD, ETFA, ETFB, ETFDH, FAH, FBP1, FUCA1, G6PC1, GAA, GALC, GALE, GALK1, GALT, GAMT, GATM, GBA1, GBE1, GCDH, GCK, GCSH, GLA, GLB1, GLDC, GNPTAB, GNPTG, GNS, GUSB, HAAO, HADHA, HADHB, HGD, HGSNAT, HLCS, HMGCL, HMGCS2, HPD, HPRT1, HYAL1, IDS, IDUA, IVD, L2HGDH, LIPA, MAN2B1, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MPI, MTHFR, MTR, MTRR, NAGA, NAGLU, NAGS, NPC1, NPC2, NPL, OAT, OTC, PAH, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGM1, PHGDH, PHKA2, PHKB, PHKG2, PHYH, PMM2, PNPO, PRODH, PSAP, PSPH, PTS, PYGL, QDPR, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC2A1, SLC2A2, SLC37A4, SLC46A1, SLC52A2, SLC52A3, SLC6A8, SLC7A7, SMPD1, SPR, SUCLA2, SUCLG1, SUOX, TAT, TCN2, TPP1, TREH, TYMP, UROC1, UROS