Metabolopathies

Metabolopathies

Between 1-2 cases per 1,000 newborns suffer from metabolic disorders that, in the absence of adequate treatment, can lead to serious and irreversible problems.
Clinical areas
Broader studies
Documentation
Accepted samples
  • EDTA blood (1x 5 ml)
  • Saliva (specific Isohelix kit)
  • Buccal exudate (2x sterile isopes)
  • Isolated DNA (>30 ng/μl in >100 μl TE buffer)

Remember to label each sample with the patient's first and last name or with the identifier used on the request form.

Metabolic diseases

Inborn errors of the metabolism are a group of rare diseases caused by genetic defects that involve failure of the metabolic pathways. An increasing number of these syndromes can be treated if they are diagnosed at an early stage. We provide the study of 76 genes associated with the diseases included in the neonatal screening program recommended by the AEP, AAP and ACMG.

Studies included
ABCD1, ABCD4, ACAD8, ACADM, ACADS, ACADSB ACADVL, ACAT1, ACOX1, ADA, AHCY, ARG1, ASL, ASS1, AUH, BCKDHA, BCKDHB, BTD, CBS, CFTR, CPT1A, CPT2, CYP21A2, DBT, ETFA, ETFB, ETFDH, FAH, G6PC1, GAA, GALC, GALE, GALK1, GALT, GCH1, GCDH, GLA, GLDC, GNMT, GYS2, HADHA, HADHB, HBB, HCFC1, HLCS, HMGCL, HPD HSD17B10, IDUA, IVD, MAT1A, LMBRD1, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MTHFR, MTRR, NAGS, OTC, PAH, PCBD1, PCCA, PCCB, PTS, QDPR, SLC2A1, SLC22A5, SLC25A13, SLC25A20, TAT.
ABCA1, ABCB4, ABCD1, ABCD4, ABCG5, ABCG8, ABCG8, ACAD8, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, AGA, AGL, AGPS, AGXT, AHCY, ALAD, ALAS2, ALDH3A2, ALDH4A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, AUH, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CFTR, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CPT2, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DDOST, DHCR7,DMP1, DOLK, DPAGT1, DPM3, DPYD, ENO3, ENPP1, EPHX2, ETFA, ETFB, ETFDH, ETHE1, FAH, FBP1, FECH, FGF23,FLAD1, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GCH1, GCDH, GHR, GK, GLA, GLB1, GLDC, GM2A, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GRHPR, GUSB, GYG1, GYS1, GYS2, HADHA, HADHB, HBB, HCFC1, HEXA, HEXB, HFE, HJV, HGD, HGSNAT, HLCS, HMBS, HMGCL, HOGA1, HPD, HPRT1, HSD17B10,HSD3B2, HYAL1, IDS, IDUA, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LIPI, LMBRD1, LPA, LPL, MAGT1, MGAT2, MAT1A, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, MLYCD, MPI, MTHFR, MTRR, NAGA, NAGLU, NAGS, NEU1, NGLY1, NPC1, NPC2, OTC, PAH, PCBD1, PCCA, PCCB, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, PMM2, POR, PPOX, PPT1, PRKAG2, PSAP, PTS, PYGL, PYGM, QDPR, RBCK1, RFKM, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A32, SLC25A36, SLC2A1, SLC2A2, SLC37A4, SLC3A1, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SRD5A3, SUMF1, TAT, TFR2, TPP1, TUSC3, UGT1A1, UMPS, UROD, UROS.
Information

Amino acid metabolism

Congenital defects of amino acid metabolism are caused by disorders in both the synthesis and degradation of amino acids. Their early detection is essential to avoid serious and irreversible consequences. Through the different studies we approach the diagnosis of the main alterations in the metabolism of amino acids such as phenylketonuria, acidurias or alterations in the urea cycle.

Studies included
Acidurias
ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ALDH5A1, ASPA, AUH, BTD, CLPB, D2HGDH, DNAJC19, ETFA, ETFB, ETFDH, FTCD, GCDH, HCFC1, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HTRA2, IDH2, IVD, L2HGDH, LMBRD1, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MVK, OPA3, OXCT1, PCCA, PCCB, PRDX1, SERAC1, SLC25A1, TAFAZZIN, TIMM50, UROC1.
ASPA.
AUH, CLPB, DNAJC19, HTRA2, OPA3, SERAC1, TAFAZZIN, TIMM50.
GCDH.
IVD.
MCEE, MMAA, MMAB, MMADHC, MMUT.
MVK.
PCCA, PCCB.
Urea cycle disorders
ALPL, CLCN5, DMP1, ENPP1, FGF23, PHEX, SLC34A3.
ARG1, ASL, ASS1, CA5A, CPS1, GLUD1, IVD, MMAA, MMAB, MMUT, NAGS, OAT, OTC, PCCA, PCCB, SLC25A13, SLC25A15, SLC7A7.
ARG1, ASL, ASS1, CPS1, GLUD1, NAGS, OTC, SLC25A13, SLC25A15.
Amino acid metabolism
ALDH4A1, AMT, BCKDHA, BCKDHB, CBS, CTNS, DBT, DLD, FAH, FMO3, GCH1, GCSH, GLDC, GNMT, GSS, HGD, HPD, MAT1A, MTHFR, OCRL, PAH, PCBD1, PHGDH, PPM1K, PRODH, PTS, QDPR, QDPR, SLC25A15, SLC3A1, SLC6A9, SLC7A7, SLC7A9, SLC7A9, SUOX, TAT.
BCKDHA, BCKDHB, DBT, DLD, PPM1K.
CBS.
CTNS.
FAH, HPD, TAT.
GCH1, PCBD1, PTS, QDPR.
PAH.
SLC3A1, SLC7A9.
Information

Carbohydrate metabolism

Carbohydrate metabolism refers to the biochemical processes of formation, breakdown and conversion of carbohydrates in the body. Through the different panels we approach the study of the main diseases associated with defects in carbohydrate metabolism such as glycogen storage disease, fructose metabolism disorders and galactosemia.

Studies included
Glycogen storage disease
AGL, ALDOA, ENO3, G6PC1, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PRKAG2, PYGL, PYGM, RBCK1, SLC2A2, SLC37A4.
G6PC1.
GAA.
Fructose metabolism disorder
ALDOB, FBP1, KHK.
Galactosemia
GALE, GALK1, GALM, GALT, GK.
Information

Glycosylation disorder

This group of diseases is characterized by defects of enzymes involved in glycosylation processes. Glycosylation consists of the modification of proteins and other macromolecules by the addition of a carbohydrate. Our panel includes the study of genes with a proven association to this type of pathology.

Studies included
ATP6V0A2, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V1A, ATP6V1E1, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, B4GAT1, CAD, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, CRPPA, DAG1, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, EXT1, EXT2, FKRP, FKTN, GALNT3, GFPT1, GMPPA, GMPPB, GNE, GPAA1, KRT5, LARGE1, LFNG, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, NUS1, PAGP3, PGAP1, PGAP2, PGM1, PGM3, PIGA, PIGB, PIGG, PIGK, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PMM2, POFUT1, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PSENEN, RFT1, RXYLT1, SEC23B, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC39A8, SRD5A3, SSR4, ST3GAL5, STT3A, STT3B, TMEM165, TMEM199, TUSC3, XYLT1.
Information

Lipid Metabolism Disorder

This group of diseases is caused by a deficit or malfunction of the enzymes responsible for lipid degradation, resulting in the accumulation of lipids in the body. We perform the diagnosis of this type of disorders by means of a targeted exome that includes the study of the associated genes.

Studies included
ABCA1, ABCG5, ABCG8, ABHD12, ABHD5, AGK, AKR1D1, ALDH3A2, AMACR, APOA1, APOA5, APOB, APOC2, APOC3, APOE, ATL1, ATL23, BAAT, CCDC115, CERS1, CETP, CHKB, CYP27A1, CYP7A1, CYP7B1, DHCR24, DHCR7, EBP, ELOVL4, ELOVL5, EPHX1, GPIHBP1, HSD3B7, LBR, LCAT, LDLR, LDLRAP1, LIPA,LIPC, LMF1, LPIN1, LPL, MSMO1, MTTP, MVK, NADK2, NSDHL, PANK2, PCSK9, PLA2G6, PNPLA2, PNPLA6, SAR1B, SC5D, SELENOI, SERAC1, SGPL1, SLC25A4, SLC27A5, SMPD1, SPTLC1, SPTLC2, ST3GAL5, TAFAZZIN, TJP2, TKFC, TMEM199.
Information

Energy metabolism

Energy metabolism refers to the set of metabolic pathways that aim to generate energy to meet the energy needs of the organism. Through the different panels we approach the study of the genes involved in fatty acid oxidation and ketogenesis and disorders of pyruvate metabolism.

Studies included
ACADM, ACADS, ACADVL, ETFA, ETFB, ETFDH, FLAD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, SLC25A32.
DLAT, DLD, PC, PDHA1, PDHB, PDHX, PDP1.
Information

Lysosomal disease

They are caused by the inability to degrade macromolecules due to a specific functional defect. Due to this dysfunction, macromolecules accumulate in the lysosome leading to various diseases. Through the different panels we approach the study of the main lysosomal diseases such as mucopolysaccharidosis or Tay-Sachs disease among others.

Studies included
ACP2, AGA, ARSA, ARSB, ASAH1, ATP13A2, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSF, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNE, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SCARB2, SGSH, SLC17A5, SMPD1, SUMF1, TPP1, VPS33A.
GALC, PSAP.
NPC1, NPC2, SMPD1.
GNPTAB, GNPTG, MCOLN1.
GLA.
GBA, PSAP.
CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1.
Mucopolysaccharidosis
ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MCOLN1, NAGLU, NEU1, SGSH, VPS33A.
IDUA.
IDS.
GNS, HGSNAT, NAGLU, SGSH.
GALNS, GLB1.
Information

Metabolite absorption and transport disorders.

They refer to a group of diseases characterized by defects in the absorption and transport of any molecule involved in the cellular metabolism. Through the different panels we approach the study of diseases caused by metal metabolism disorders and defects related to the transport of vitamins.

Studies included
ALDH7A1, BTD, DHFR, FOLR1, FTCD, MTHFR, MTHFS, PNPO, SLC19A3, SLC46A1.
Disorder of metal metabolism
ATP13A2, ATP7A, ATP7B, BMP2, c19orf12, CP, FA2H, FTH1, FTL, FXN, HAMP, HFE, HJV, PANK2, PLA2G6, SLC11A2, SLC40A1, TF, TFR2, TMPRSS6, WDR45.
ATP7A, ATP7B.
ATP7A.
ATP7B.
ATP13A2, BMP2, c19orf12, CP, FA2H, FTH1, FTL, FXN, HAMP, HFE, HJV, PANK2, PLA2G6, SLC11A2, SLC40A1, TF, TFR2, TMPRSS6, WDR45.
PANK2, PLA2G6, FA2H, ATP13A2, c19orf12, WDR45.
Information

Peroxisomal disease

Peroxisomes are cellular organelles responsible for transforming some compounds into others by means of enzymes inside them. Among their main functions are to carry out the oxidative reactions of degradation of fatty acids and amino acids. The dysfunction of these enzymes gives rise to different diseases such as Zellweger's Syndrome or Adrenoleukodystrophy, pathologies for which we have specific panels.

Studies included
ABCD1, ABCD3, ACOX1, AGK, AGPS, AGXT, AMACR, ARSE, BCAP31, CAT, DNM1L, DYM, EBP, EHHADH, FAR1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SUGCT.
PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6.
ABCD1.
ACOX1.
Information

Defects in purine and pyriminide metabolism

Defects in purine and pyrimidine metabolism affect nucleotide metabolism. Deficiencies in the enzymes involved in their synthesis or degradation lead to the development of diseases. Through the different panels we approach the study of the main genes involved in the metabolism of these components.

Studies included
ADSL, DPD, DPYD, HPRT1, UMPS.
HPRT1.
Information

Defects in the metabolism of neurotransmitters and neuromodulators.

Neurotransmitters are chemical substances that release, amplify and modulate signals between neurons to communicate with each other and neuromodulators are substances secreted at a synapse that influence the postsynaptic consequences of neurotransmission. Defects in the metabolism of these substances lead to the development of disease. We approach their diagnosis by studying the main genes involved in the processes of neurotransmission and neuromodulation.

Studies included
AGAT, ALDH5A1, GAMT, SLC2A1, SLC6A8.
Information