Panel 3: Defects intermediary metabolism


Includes:

Aminoacidopathies organic acidurias, vitamin metabolism defects that happens with altered amino acids, organic acids, acyl-carnitines detectable by biochemical techniques (tandem mass spectrometry and chromatography) values.

NMG3: Defects intermediary metabolism

NMG3_1: Urea Cycle

NMG3_2: Aminoacidopathies

NMG3_3: Organic acidurias

NMG3_4: Beta oxidation

NMG3_5: Defects purine-pyrimidine metabolism

Panel 3: Intermediary metabolism

Included genes:

OTC MAT1A PRODH FTCD
CPS1 PNPO ALDH4A1 SLC46A1
ASS1 PAH OAT MTRR
SLC25A13 FAH PEPD MTR
ASL GSTZ1 DBT DMGDH
ARG1 TAT BCKDHB PHGDH
SLC25A15 HPD DLD PSPH
NAGS HGD BCKDHA ACAD8
OGDH CTH HIBCH ACADSB
GCH1 HAL PC PCCA
PTS AASS SUOX PCCB
QDPR AMT MOCS1 MUT
PCBD1 GLDC MOCS2 LMBRD1
CBS GCSH GPHN MMADHC
MTHFR GNMT AHCY MMACHC
MMAA MCCC1 ETFDH BTD
MMAB MCCC2 GCDH HLCS
MTRR AGXT HSD17B10 GK
MTR GRHPR ETHE1 SLC3A1
IVD HOGA1 L2HGDH SLC7A9
AUH MCEE D2HGDH SLC6A19
TAZ ACSF3 IDH2 SLC36A2
OPA3 FH MLYCD SLC6A20
DNAJC19 C7orf10 ALDH5A1 SLC6A19
ETFA ETFB GLYCTK CTNS