Aromatic L-amino Acid Decarboxylase Deficiency

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

Genes related to Aromatic L-amino Acid Decarboxylase Deficiency

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Clinical Features

Top most frequent phenotypes and symptoms related to Aromatic L-amino Acid Decarboxylase Deficiency

Intellectual disability
Global developmental delay
Generalized hypotonia
Pain
Ptosis
Feeding difficulties
Motor delay
Hyperreflexia
Fatigue
Hypoplasia of the corpus callosum

And another 43 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Aromatic L-amino Acid Decarboxylase Deficiency Is also known as ddc deficiency, aadc deficiency, dopa decarboxylase deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Aromatic L-amino Acid Decarboxylase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...) View the complete list with 57 more genes Panel complete gene list SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX, SLC19A3, TPK1, TREM2, ARX, RNASEH2A, VPS13A, L2HGDH, THAP1, FA2H, PDHX, ADAR, CP, RNASEH2C, CHMP2B, MMADHC, C19orf12, RNASEH2B, DCAF17, CYP27A1, FOXRED1, DDC, WDR45, DLAT, FASTKD2, EARS2, ATP13A2, DRD2, DRD5, PRRT2, SLC46A1, TOR1A, AFG3L2, SDHAF1, ERCC6, FOXG1, GAMT, GCDH, GCH1, MR1, HPRT1, AP1S2, KCNQ2, MAT1A, ARSA, MPV17, ATM, ATP1A2, ATP1A3, PRKN, ATP7B, AUH, PLP1, PNKD, PSEN1, PTEN, PTS, QDPR Specificity 2 % Genes 100 %
Movement Disorders Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...) View the complete list with 72 more genes Panel complete gene list SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX, SLC19A3, PARK7, TRIM32, TPK1, TREM2, ARX, RNASEH2A, LRRK2, VPS13A, L2HGDH, THAP1, FA2H, PDHX, ADAR, CP, RNASEH2C, CSF1R, CHMP2B, MMADHC, C19orf12, RNASEH2B, DCAF17, CYP27A1, FOXRED1, DCTN1, DDC, WDR45, DLAT, FASTKD2, EARS2, ATP13A2, DRD2, DRD5, PRRT2, SLC46A1, TOR1A, AFG3L2, SDHAF1, ERCC6, FOXG1, FTL, FUCA1, GAMT, GBA, GCDH, GCH1, MR1, HPRT1, AP1S2, KCNQ2, MAPT, MAT1A, ARSA, MPV17, ATM, ATP1A2, ATP1A3, PRKN, ATP7B, KIF1A, AUH, PLA2G6, PLP1, PNKD, POLG, PSEN1, PTEN, PTS, QDPR Specificity 2 % Genes 100 %
Dystonia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...) View the complete list with 150 more genes Panel complete gene list BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH, TIMM8A, NKX2-1, TPI1, TREX1, XK, XPR1, VPS35, FBXO7, ANO3, HTRA2, NPC2, PINK1, MICU1, DNAJC6, CBS, LRPPRC, BSCL2, KMT2B, PANK2, NDUFAF5, SAMHD1, APTX, DNAJC5, SLC19A3, PARK7, BCAP31, MCEE, COQ8A, MLC1, TPK1, ACY1, ARX, RNASEH2A, MMAA, IFIH1, VPS13A, MMAB, MECR, AARS, L2HGDH, TPP1, CLN3, CLN5, CLN6, TUBB4A, CLN8, THAP1, SLC39A14, AARS2, HACE1, SERAC1, FA2H, PDHX, COL4A1, ADAR, COX10, COX15, CP, UBA5, ADCY5, NDUFA12, RNASEH2C, TACO1, CSF1R, MMADHC, CTSD, CTSF, SLC30A10, C19orf12, VAC14, RNASEH2B, KCTD17, DCAF17, TTC19, CYP27A1, HEPACAM, FOXRED1, COX20, DDC, NDUFAF2, MFSD8, NDUFAF6, DNAJC12, WDR45, DLAT, TBC1D24, EARS2, TOR1AIP1, LIPT1, UQCRQ, COASY, ATP13A2, PRRT2, CLPB, TOR1A, AFG3L2, ECHS1, SDHAF1, FOXG1, FTL, FUCA1, GAMT, GCDH, GCH1, GLB1, GM2A, GNAL, GNAO1, GNB1, ALS2, GRN, HEXA, HIVEP2, HPCA, HPRT1, MDH2, MECP2, ARSA, MMUT, NDUFA10, NDUFA2, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NPC1, ATM, ATP1A2, ATP1A3, NUP62, PRKN, ATP7B, PDGFB, PDGFRB, PDHA1, AUH, PLA2G6, PLP1, PNKD, PNKP, POLG, PPT1, PRKRA, PSEN1, PTS, QDPR Specificity 1 % Genes 100 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). SGSH, SLC2A1, SPR, NPC2, CBS, APTX, COQ8A, PDSS1, MMAA, MMAB, LMBRD1, PDSS2, MMACHC, MMADHC, COQ2, COQ9, CYP27A1, HGSNAT, DBT, DDC , (...) View the complete list with 39 more genes Panel complete gene list SGSH, SLC2A1, SPR, NPC2, CBS, APTX, COQ8A, PDSS1, MMAA, MMAB, LMBRD1, PDSS2, MMACHC, MMADHC, COQ2, COQ9, CYP27A1, HGSNAT, DBT, DDC, SLC6A19, DLD, ADSL, PNPO, GAMT, GATM, GCDH, GCH1, GNS, HLCS, HPRT1, IDS, IDUA, ABCD1, IVD, ARG1, MAN2B1, ARSA, MLYCD, MOCS1, MOCS2, MTHFR, ASL, MTR, MTRR, MMUT, ASS1, NAGLU, PNP, NPC1, OTC, PCBD1, PCCA, PCCB, ALDH7A1, PTS, QDPR, BCKDHA, BCKDHB Specificity 2 % Genes 100 %
Dystonia (NGS panel for 43 genes). By CGC Genetics (Portugal). SGCE, SLC2A1, SLC6A3, SMPD1, SPR, TAF1, TH, TIMM8A, ACTB, CACNA1B, ANO3, NPC2, PANK2, BCAP31, VPS13A, TUBB4A, THAP1, COL6A3, SLC30A10, KCTD17 , (...) View the complete list with 23 more genes Panel complete gene list SGCE, SLC2A1, SLC6A3, SMPD1, SPR, TAF1, TH, TIMM8A, ACTB, CACNA1B, ANO3, NPC2, PANK2, BCAP31, VPS13A, TUBB4A, THAP1, COL6A3, SLC30A10, KCTD17, DDC, DRD2, PRRT2, TOR1A, FTL, GCDH, GCH1, GNAL, HEXA, MR1, HPCA, KCNMA1, MECP2, ARSA, NPC1, ATM, ATP1A3, PRKN, ATP7B, AUH, PLA2G6, PNKD, PRKRA Specificity 3 % Genes 100 %
DDC Sequence Analysis. By Translational Metabolic Laboratory Radboud University Medical Centre (Netherlands). DDC Specificity 100 % Genes 100 %
Aromatic L-Amino Acid Decarboxylase Deficiency. By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center (Netherlands). DDC Specificity 100 % Genes 100 %
Aromatic L-amino Acid Decarboxylase Deficiency via DDC Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). DDC Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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