MCID: ARM002
MIFTS: 38

Aromatic L-Amino Acid Decarboxylase Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Aromatic L-Amino Acid Decarboxylase Deficiency

MalaCards integrated aliases for Aromatic L-Amino Acid Decarboxylase Deficiency:

Name: Aromatic L-Amino Acid Decarboxylase Deficiency 57 12 53 25 59 13
Aadc Deficiency 57 12 53 25 59
Deficiency of Aromatic-L-Amino-Acid Decarboxylase 25 29 6 73
Dopa Decarboxylase Deficiency 57 53 25 75
Ddc Deficiency 57 53 25 75
Aromatic-L-Amino-Acid Decarboxylase Deficiency 75 40
Aromatic Amino Acid Decarboxylase Deficiency 53 73
Aromatic L-Amino Acid Decarboxylase Deficiency 37
Aromatic L-Amino-Acid Decarboxylase Deficiency 75
Dopa Decarboxylase 13
Aadcd 75

Characteristics:

Orphanet epidemiological data:

59
aromatic l-amino acid decarboxylase deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
drug-induced dyskinesias occur in a subset of patients
diurnal fluctuation of symptoms


HPO:

32
aromatic l-amino acid decarboxylase deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aromatic L-Amino Acid Decarboxylase Deficiency

NIH Rare Diseases : 53 Aromatic l-amino acid decarboxylase (AADC) deficiency is a disease that affects the production of signals that allow cells in the nervous system to communicate with each other. These signals are called neurotransmitters. When the neurotransmitters are not being produced correctly, there are problems with the nervous system. Individuals affected by this disease often have trouble coordinating movements, especially of the head, face, and neck. Other symptoms of the condition include problems controlling blood pressure, heart rate, and body temperature. AADC deficiency is caused by mutations in the DDC gene. The disease is inherited in an autosomal recessive manner. Diagnosis of the disease may be established based on a spinal tap and a blood test that show abnormalities in levels of neurotransmitters and enzymes related to the disorder. Genetic testing may be used to confirm the diagnosis. Treatment of the disease may include a variety of medications which may result in varying levels of success in individual patients. Physical, occupational, and speech therapy may also be of benefit. 

MalaCards based summary : Aromatic L-Amino Acid Decarboxylase Deficiency, also known as aadc deficiency, is related to movement disease and hypoglycemia, and has symptoms including constipation, diarrhea and myoclonus. An important gene associated with Aromatic L-Amino Acid Decarboxylase Deficiency is DDC (Dopa Decarboxylase), and among its related pathways/superpathways are Tyrosine metabolism and Tryptophan metabolism. The drugs Dihydroxyphenylalanine and Dopa Decarboxylase have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and whole blood, and related phenotypes are abnormality of the face and ptosis

Disease Ontology : 12 An inherited metabolic disorder characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction with onset in infancy or childhood that has material basis in homozygous or compound heterozygous mutation in the DDC gene on chromosome 7p12.

Genetics Home Reference : 25 Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system.

OMIM : 57 AADC deficiency is an autosomal recessive inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency (Abeling et al., 2000). The disorder is clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction, usually beginning in infancy or childhood (summary by Brun et al., 2010). (608643)

UniProtKB/Swiss-Prot : 75 Aromatic L-amino-acid decarboxylase deficiency: An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive.

Wikipedia : 76 Aromatic L-amino acid decarboxylase (AADC or AAAD), also known as DOPA decarboxylase (DDC), tryptophan... more...

Related Diseases for Aromatic L-Amino Acid Decarboxylase Deficiency

Diseases related to Aromatic L-Amino Acid Decarboxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 movement disease 10.1
2 hypoglycemia 10.1
3 fasting hypoglycemia 10.1
4 encephalopathy 10.1
5 epilepsy 10.1
6 neuroblastoma 9.9

Graphical network of the top 20 diseases related to Aromatic L-Amino Acid Decarboxylase Deficiency:



Diseases related to Aromatic L-Amino Acid Decarboxylase Deficiency

Symptoms & Phenotypes for Aromatic L-Amino Acid Decarboxylase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
miosis
oculogyric crises

Neurologic Central Nervous System:
hyperreflexia
myoclonus
choreoathetosis
limb hypertonia
limb dystonia
more
Cardiovascular Vascular:
hypotension

Laboratory Abnormalities:
decreased csf homovanillic acid (hva)
decreased activity of aromatic l-amino acid decarboxylase (aadc)
decreased csf 5-hydroxyindoleacetic acid (5-hiaa)
decreased plasma catecholamines
decreased whole blood serotonin
more
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
irritability

Abdomen Gastrointestinal:
constipation
diarrhea
poor feeding
gastroesophageal reflux disease

Metabolic Features:
temperature instability
paroxysmal sweating
intermittent hypothermia

Head And Neck Nose:
nasal congestion


Clinical features from OMIM:

608643

Human phenotypes related to Aromatic L-Amino Acid Decarboxylase Deficiency:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 abnormality of the face 32 HP:0000271
2 ptosis 32 HP:0000508
3 miosis 32 HP:0000616
4 emotional lability 32 HP:0000712
5 irritability 32 HP:0000737
6 hyperhidrosis 32 HP:0000975
7 global developmental delay 32 HP:0001263
8 choreoathetosis 32 HP:0001266
9 myoclonus 32 HP:0001336
10 hyperreflexia 32 HP:0001347
11 nasal obstruction 32 HP:0001742
12 diarrhea 32 HP:0002014
13 constipation 32 HP:0002019
14 gastroesophageal reflux 32 HP:0002020
15 sleep disturbance 32 HP:0002360
16 limb dystonia 32 HP:0002451
17 limb hypertonia 32 HP:0002509
18 hypotension 32 HP:0002615
19 babinski sign 32 HP:0003487
20 decreased csf homovanillic acid 32 HP:0003785
21 intermittent hypothermia 32 HP:0005964
22 temperature instability 32 HP:0005968
23 feeding difficulties in infancy 32 HP:0008872
24 muscular hypotonia of the trunk 32 HP:0008936

UMLS symptoms related to Aromatic L-Amino Acid Decarboxylase Deficiency:


constipation, diarrhea, myoclonus, nasal congestion (finding), sleep disturbances, dystonia, limb

Drugs & Therapeutics for Aromatic L-Amino Acid Decarboxylase Deficiency

Drugs for Aromatic L-Amino Acid Decarboxylase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dihydroxyphenylalanine Phase 2,Phase 1
2 Dopa Decarboxylase Phase 2,Phase 1
3 Antiparkinson Agents Phase 2,Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion Recruiting NCT02926066 Phase 2 AAV2-hAADC
2 A Phase I/II Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC Active, not recruiting NCT01395641 Phase 1, Phase 2 gene therapy
3 A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients Recruiting NCT02852213 Phase 1 AAV2-hAADC
4 Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency Completed NCT02399761

Search NIH Clinical Center for Aromatic L-Amino Acid Decarboxylase Deficiency

Genetic Tests for Aromatic L-Amino Acid Decarboxylase Deficiency

Genetic tests related to Aromatic L-Amino Acid Decarboxylase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Aromatic-L-Amino-Acid Decarboxylase 29 DDC

Anatomical Context for Aromatic L-Amino Acid Decarboxylase Deficiency

MalaCards organs/tissues related to Aromatic L-Amino Acid Decarboxylase Deficiency:

41
Testes, Heart, Whole Blood, Brain

Publications for Aromatic L-Amino Acid Decarboxylase Deficiency

Articles related to Aromatic L-Amino Acid Decarboxylase Deficiency:

(show all 36)
# Title Authors Year
1
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in Taiwan. ( 28856607 )
2017
2
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency. ( 27216367 )
2016
3
Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency. ( 27859928 )
2016
4
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition. ( 27371992 )
2016
5
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. ( 25956449 )
2015
6
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype? ( 24788355 )
2015
7
Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation. ( 25024584 )
2014
8
A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency. ( 24714172 )
2014
9
Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots. ( 24513538 )
2014
10
Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency. ( 23390030 )
2013
11
Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency. ( 23275025 )
2013
12
Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia. ( 24037885 )
2013
13
Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study. ( 21963339 )
2012
14
Gene therapy for aromatic L-amino acid decarboxylase deficiency. ( 22593174 )
2012
15
Gene therapy for aromatic L-amino acid decarboxylase deficiency. ( 22989964 )
2012
16
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. ( 20505134 )
2010
17
Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox. ( 20832343 )
2010
18
Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency. ( 19520530 )
2010
19
Aromatic L-amino acid decarboxylase deficiency in Taiwan. ( 18567514 )
2009
20
Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. ( 19172410 )
2009
21
A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency. ( 19231266 )
2009
22
Aromatic L-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements. ( 18754761 )
2008
23
Anesthesia management in a young child with aromatic l-amino acid decarboxylase deficiency. ( 16409536 )
2006
24
Combined general and regional anesthetic in a child with aromatic L-amino acid decarboxylase deficiency. ( 17122302 )
2006
25
Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. ( 16876014 )
2006
26
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. ( 14991824 )
2004
27
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. ( 15079002 )
2004
28
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. ( 12891654 )
2003
29
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. ( 12368991 )
2002
30
Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency. ( 12200739 )
2002
31
The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients. ( 10896284 )
2000
32
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency. ( 10522874 )
1999
33
Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises. ( 10728198 )
1997
34
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family. ( 9309516 )
1997
35
Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology. ( 1281049 )
1992
36
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. ( 1357595 )
1992

Variations for Aromatic L-Amino Acid Decarboxylase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Aromatic L-Amino Acid Decarboxylase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 DDC p.Gly102Ser VAR_019309 rs137853207
2 DDC p.Pro47His VAR_046137 rs780542462
3 DDC p.Ala91Val VAR_046138 rs137853211
4 DDC p.Ser147Arg VAR_046139 rs137853210
5 DDC p.Ser250Phe VAR_046140 rs137853208
6 DDC p.Ala275Thr VAR_046141 rs137853212
7 DDC p.Phe309Leu VAR_046142 rs137853209
8 DDC p.Arg347Gln VAR_046143 rs201951824
9 DDC p.Leu408Ile VAR_046144

ClinVar genetic disease variations for Aromatic L-Amino Acid Decarboxylase Deficiency:

6
(show top 50) (show all 77)
# Gene Variation Type Significance SNP ID Assembly Location
1 DDC NM_001082971.1(DDC): c.304G> A (p.Gly102Ser) single nucleotide variant Pathogenic rs137853207 GRCh37 Chromosome 7, 50607624: 50607624
2 DDC NM_001082971.1(DDC): c.304G> A (p.Gly102Ser) single nucleotide variant Pathogenic rs137853207 GRCh38 Chromosome 7, 50539926: 50539926
3 DDC NM_001082971.1(DDC): c.749C> T (p.Ser250Phe) single nucleotide variant Pathogenic rs137853208 GRCh37 Chromosome 7, 50571723: 50571723
4 DDC NM_001082971.1(DDC): c.749C> T (p.Ser250Phe) single nucleotide variant Pathogenic rs137853208 GRCh38 Chromosome 7, 50504025: 50504025
5 DDC NM_001082971.1(DDC): c.925T> C (p.Phe309Leu) single nucleotide variant Pathogenic rs137853209 GRCh37 Chromosome 7, 50563067: 50563067
6 DDC NM_001082971.1(DDC): c.925T> C (p.Phe309Leu) single nucleotide variant Pathogenic rs137853209 GRCh38 Chromosome 7, 50495369: 50495369
7 DDC NM_001082971.1(DDC): c.439A> C (p.Ser147Arg) single nucleotide variant Pathogenic rs137853210 GRCh37 Chromosome 7, 50597037: 50597037
8 DDC NM_001082971.1(DDC): c.439A> C (p.Ser147Arg) single nucleotide variant Pathogenic rs137853210 GRCh38 Chromosome 7, 50529339: 50529339
9 DDC NM_001082971.1(DDC): c.272C> T (p.Ala91Val) single nucleotide variant Pathogenic rs137853211 GRCh37 Chromosome 7, 50607656: 50607656
10 DDC NM_001082971.1(DDC): c.272C> T (p.Ala91Val) single nucleotide variant Pathogenic rs137853211 GRCh38 Chromosome 7, 50539958: 50539958
11 DDC NM_001082971.1(DDC): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs137853212 GRCh37 Chromosome 7, 50566899: 50566899
12 DDC NM_001082971.1(DDC): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs137853212 GRCh38 Chromosome 7, 50499201: 50499201
13 DDC DDC, IVS6DS, A-T, +4 single nucleotide variant Pathogenic
14 DDC NM_000790.3(DDC): c.435+6G> T single nucleotide variant Uncertain significance rs373041067 GRCh37 Chromosome 7, 50605552: 50605552
15 DDC NM_000790.3(DDC): c.435+6G> T single nucleotide variant Uncertain significance rs373041067 GRCh38 Chromosome 7, 50537854: 50537854
16 DDC NM_001082971.1(DDC): c.1040G> A (p.Arg347Gln) single nucleotide variant Pathogenic rs201951824 GRCh38 Chromosome 7, 50476625: 50476625
17 DDC NM_001082971.1(DDC): c.1040G> A (p.Arg347Gln) single nucleotide variant Pathogenic rs201951824 GRCh37 Chromosome 7, 50544323: 50544323
18 DDC NM_000790.3(DDC): c.629C> T (p.Pro210Leu) single nucleotide variant Benign/Likely benign rs6262 GRCh37 Chromosome 7, 50595920: 50595920
19 DDC NM_000790.3(DDC): c.629C> T (p.Pro210Leu) single nucleotide variant Benign/Likely benign rs6262 GRCh38 Chromosome 7, 50528222: 50528222
20 DDC NM_000790.3(DDC): c.*155C> T single nucleotide variant Uncertain significance rs886062369 GRCh37 Chromosome 7, 50526405: 50526405
21 DDC NM_000790.3(DDC): c.*155C> T single nucleotide variant Uncertain significance rs886062369 GRCh38 Chromosome 7, 50458707: 50458707
22 DDC NM_000790.3(DDC): c.565G> C (p.Asp189His) single nucleotide variant Uncertain significance rs539762148 GRCh37 Chromosome 7, 50596911: 50596911
23 DDC NM_000790.3(DDC): c.565G> C (p.Asp189His) single nucleotide variant Uncertain significance rs539762148 GRCh38 Chromosome 7, 50529213: 50529213
24 DDC NM_000790.3(DDC): c.412G> A (p.Gly138Arg) single nucleotide variant Uncertain significance rs886062375 GRCh38 Chromosome 7, 50537883: 50537883
25 DDC NM_000790.3(DDC): c.412G> A (p.Gly138Arg) single nucleotide variant Uncertain significance rs886062375 GRCh37 Chromosome 7, 50605581: 50605581
26 DDC NM_000790.3(DDC): c.6C> T (p.Asn2=) single nucleotide variant Uncertain significance rs749246611 GRCh37 Chromosome 7, 50611778: 50611778
27 DDC NM_000790.3(DDC): c.6C> T (p.Asn2=) single nucleotide variant Uncertain significance rs749246611 GRCh38 Chromosome 7, 50544080: 50544080
28 DDC NM_000790.3(DDC): c.*341C> T single nucleotide variant Likely benign rs11575553 GRCh37 Chromosome 7, 50526219: 50526219
29 DDC NM_000790.3(DDC): c.*341C> T single nucleotide variant Likely benign rs11575553 GRCh38 Chromosome 7, 50458521: 50458521
30 DDC NM_000790.3(DDC): c.*314T> C single nucleotide variant Likely benign rs11575552 GRCh37 Chromosome 7, 50526246: 50526246
31 DDC NM_000790.3(DDC): c.*314T> C single nucleotide variant Likely benign rs11575552 GRCh38 Chromosome 7, 50458548: 50458548
32 DDC NM_000790.3(DDC): c.*23C> A single nucleotide variant Uncertain significance rs560640944 GRCh37 Chromosome 7, 50526537: 50526537
33 DDC NM_000790.3(DDC): c.*23C> A single nucleotide variant Uncertain significance rs560640944 GRCh38 Chromosome 7, 50458839: 50458839
34 DDC NM_000790.3(DDC): c.478C> T (p.Arg160Trp) single nucleotide variant Uncertain significance rs886062374 GRCh38 Chromosome 7, 50529300: 50529300
35 DDC NM_000790.3(DDC): c.478C> T (p.Arg160Trp) single nucleotide variant Uncertain significance rs886062374 GRCh37 Chromosome 7, 50596998: 50596998
36 DDC NM_000790.3(DDC): c.265A> G (p.Met89Val) single nucleotide variant Uncertain significance rs886062376 GRCh38 Chromosome 7, 50539965: 50539965
37 DDC NM_000790.3(DDC): c.265A> G (p.Met89Val) single nucleotide variant Uncertain significance rs886062376 GRCh37 Chromosome 7, 50607663: 50607663
38 DDC NM_000790.3(DDC): c.234C> T (p.Ala78=) single nucleotide variant Likely benign rs11575302 GRCh38 Chromosome 7, 50539996: 50539996
39 DDC NM_000790.3(DDC): c.234C> T (p.Ala78=) single nucleotide variant Likely benign rs11575302 GRCh37 Chromosome 7, 50607694: 50607694
40 DDC NM_000790.3(DDC): c.96C> T (p.Asp32=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575290 GRCh38 Chromosome 7, 50543990: 50543990
41 DDC NM_000790.3(DDC): c.96C> T (p.Asp32=) single nucleotide variant Conflicting interpretations of pathogenicity rs11575290 GRCh37 Chromosome 7, 50611688: 50611688
42 DDC NM_000790.3(DDC): c.20G> A (p.Arg7Gln) single nucleotide variant Uncertain significance rs200792455 GRCh37 Chromosome 7, 50611764: 50611764
43 DDC NM_000790.3(DDC): c.20G> A (p.Arg7Gln) single nucleotide variant Uncertain significance rs200792455 GRCh38 Chromosome 7, 50544066: 50544066
44 DDC NM_000790.3(DDC): c.-78C> T single nucleotide variant Uncertain significance rs539605396 GRCh37 Chromosome 7, 50628760: 50628760
45 DDC NM_000790.3(DDC): c.-78C> T single nucleotide variant Uncertain significance rs539605396 GRCh38 Chromosome 7, 50561063: 50561063
46 DDC NM_000790.3(DDC): c.*297T> C single nucleotide variant Likely benign rs11575551 GRCh37 Chromosome 7, 50526263: 50526263
47 DDC NM_000790.3(DDC): c.*297T> C single nucleotide variant Likely benign rs11575551 GRCh38 Chromosome 7, 50458565: 50458565
48 DDC NM_000790.3(DDC): c.*116T> G single nucleotide variant Uncertain significance rs886062370 GRCh37 Chromosome 7, 50526444: 50526444
49 DDC NM_000790.3(DDC): c.*116T> G single nucleotide variant Uncertain significance rs886062370 GRCh38 Chromosome 7, 50458746: 50458746
50 DDC NM_000790.3(DDC): c.1041+8G> A single nucleotide variant Benign rs4490786 GRCh37 Chromosome 7, 50544314: 50544314

Expression for Aromatic L-Amino Acid Decarboxylase Deficiency

Search GEO for disease gene expression data for Aromatic L-Amino Acid Decarboxylase Deficiency.

Pathways for Aromatic L-Amino Acid Decarboxylase Deficiency

Pathways related to Aromatic L-Amino Acid Decarboxylase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Tyrosine metabolism hsa00350
2 Tryptophan metabolism hsa00380
3 Serotonergic synapse hsa04726
4 Dopaminergic synapse hsa04728

GO Terms for Aromatic L-Amino Acid Decarboxylase Deficiency

Sources for Aromatic L-Amino Acid Decarboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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