Aromatic L-amino Acid Decarboxylase Deficiency

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.

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.


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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
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
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
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
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
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 %

We have 11 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36 ABDOMINAL OBESITY-METABOLIC SYNDROME 1; AOMS1

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