AADCD
MCID: ARM002
MIFTS: 38

Aromatic L-Amino Acid Decarboxylase Deficiency (AADCD) malady

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

Aliases & Classifications for Aromatic L-Amino Acid Decarboxylase Deficiency

Aliases & Descriptions for Aromatic L-Amino Acid Decarboxylase Deficiency:

Name: Aromatic L-Amino Acid Decarboxylase Deficiency 54 50 24 25 56 13
Dopa Decarboxylase Deficiency 50 24 25 66
Aadc Deficiency 50 25 56
Ddc Deficiency 50 25 66
Deficiency of Aromatic-L-Amino-Acid Decarboxylase 25 69
Aromatic-L-Amino-Acid Decarboxylase Deficiency 66 29
Aromatic Amino Acid Decarboxylase Deficiency 50 69
Aromatic L-Amino-Acid Decarboxylase Deficiency 66
Dopa Decarboxylase 13
Aadcd 66

Characteristics:

Orphanet epidemiological data:

56
aromatic l-amino acid decarboxylase deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

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


Classifications:



External Ids:

OMIM 54 608643
Orphanet 56 ORPHA35708
UMLS via Orphanet 70 C1291564
ICD10 via Orphanet 34 G24.8
MedGen 40 C1291564
MeSH 42 D000592

Summaries for Aromatic L-Amino Acid Decarboxylase Deficiency

NIH Rare Diseases : 50 aromatic l-amino acid decarboxylase (aadc) deficiency is an inherited condition that affects the way signals are passed between certain cells in the nervous system. individuals affected by this condition often have severe movement disorders, abnormal eye movements, autonomic symptoms, and neurological impairment. the condition is caused by mutations in the ddc gene. it is inherited in an autosomal recessive pattern. treatment includes 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. last updated: 3/1/2016

MalaCards based summary : Aromatic L-Amino Acid Decarboxylase Deficiency, also known as dopa decarboxylase deficiency, is related to epilepsy and hypoglycemia, and has symptoms including constipation, myoclonus and diarrhea. An important gene associated with Aromatic L-Amino Acid Decarboxylase Deficiency is DDC (Dopa Decarboxylase). The drugs Carbidopa and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye and brain.

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 : 54 AADC deficiency is an autosomal recessive inborn error in neurotransmitter metabolism that leads to combined serotonin... (608643) more...

UniProtKB/Swiss-Prot : 66 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.

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:

id Related Disease Score Top Affiliating Genes
1 epilepsy 10.0
2 hypoglycemia 10.0
3 fasting hypoglycemia 10.0
4 encephalopathy 10.0
5 neuroblastoma 9.8

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 by clinical synopsis from OMIM:

608643

Clinical features from OMIM:

608643

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

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

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):

(show all 34)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbidopa Approved Phase 3,Phase 2,Phase 1 28860-95-9 34359 38101
2
Dopamine Approved Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
3
Levodopa Approved Phase 3,Phase 2 59-92-7 6047
4
Droxidopa Approved, Investigational Phase 3,Phase 1,Phase 2 23651-95-8 443940
5
Methyldopa Approved Phase 3 555-30-6 38853
6
Metoclopramide Approved, Investigational Phase 3 364-62-5 4168
7 Antiparkinson Agents Phase 3,Phase 1,Phase 2
8 Aromatic Amino Acid Decarboxylase Inhibitors Phase 3,Phase 2,Phase 1
9 Autonomic Agents Phase 3,Phase 2,Phase 1
10 Dopamine Agents Phase 3,Phase 2,Phase 1
11 Neurotransmitter Agents Phase 3,Phase 2,Phase 1
12 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
13 Adrenergic Agents Phase 3,Phase 1,Phase 2
14 Adrenergic Agonists Phase 3,Phase 1,Phase 2
15 Adrenergic alpha-2 Receptor Agonists Phase 3
16 Adrenergic alpha-Agonists Phase 3,Phase 1,Phase 2
17 alpha-methyltyrosine Phase 3
18 Antiemetics Phase 3
19 Antihypertensive Agents Phase 3
20 Atomoxetine Hydrochloride Phase 3
21 Dopamine Antagonists Phase 3
22 Dopamine D2 Receptor Antagonists Phase 3
23 Gastrointestinal Agents Phase 3
24 Neurotransmitter Uptake Inhibitors Phase 3
25 Sympatholytics Phase 3
26
Entacapone Approved, Investigational Phase 1, Phase 2 130929-57-6 5281081
27
Norepinephrine Approved Phase 1, Phase 2 51-41-2 439260
28 Dihydroxyphenylalanine Phase 1, Phase 2
29 Dopa Decarboxylase Phase 1, Phase 2
30 Carbidopa, levodopa drug combination Phase 2
31 Protective Agents Phase 2
32 Catechol O-Methyltransferase Inhibitors Phase 1, Phase 2
33 Vasoconstrictor Agents Phase 1, Phase 2
34 Catechol Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Treatment of Orthostatic Hypotension Enrolling by invitation NCT00581477 Phase 3
2 A Phase I/II Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC Completed NCT01395641 Phase 1, Phase 2
3 A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion Recruiting NCT02926066 Phase 2
4 Vision Response to Dopamine Replacement Recruiting NCT01663935 Phase 2
5 Augmenting Effects of L-DOPS With Carbidopa and Entacapone Terminated NCT00547911 Phase 1, Phase 2
6 A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients Recruiting NCT02852213 Phase 1
7 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:

id Genetic test Affiliating Genes
1 Deficiency of Aromatic-L-Amino-Acid Decarboxylase 29
2 Aromatic L-Amino Acid Decarboxylase Deficiency 24 DDC

Anatomical Context for Aromatic L-Amino Acid Decarboxylase Deficiency

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

39
Eye, Brain

Publications for Aromatic L-Amino Acid Decarboxylase Deficiency

Articles related to Aromatic L-Amino Acid Decarboxylase Deficiency:

(show all 35)
id Title Authors Year
1
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency. ( 27216367 )
2016
2
Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency. ( 27859928 )
2016
3
A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition. ( 27371992 )
2016
4
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma. ( 25956449 )
2015
5
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
6
A rare cause of severe diarrhoea diagnosed by urine metabolic screening: aromatic L-amino acid decarboxylase deficiency. ( 24714172 )
2014
7
Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots. ( 24513538 )
2014
8
Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation. ( 25024584 )
2014
9
Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency. ( 23275025 )
2013
10
Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency. ( 23390030 )
2013
11
Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia. ( 24037885 )
2013
12
Gene therapy for aromatic L-amino acid decarboxylase deficiency. ( 22593174 )
2012
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. ( 22989964 )
2012
15
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. ( 20505134 )
2010
16
Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox. ( 20832343 )
2010
17
Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency. ( 19520530 )
2010
18
Aromatic L-amino acid decarboxylase deficiency in Taiwan. ( 18567514 )
2009
19
Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. ( 19172410 )
2009
20
A new perspective on the treatment of aromatic L-amino acid decarboxylase deficiency. ( 19231266 )
2009
21
Aromatic L-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements. ( 18754761 )
2008
22
Anesthesia management in a young child with aromatic l-amino acid decarboxylase deficiency. ( 16409536 )
2006
23
Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. ( 16876014 )
2006
24
Combined general and regional anesthetic in a child with aromatic L-amino acid decarboxylase deficiency. ( 17122302 )
2006
25
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. ( 14991824 )
2004
26
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. ( 15079002 )
2004
27
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes. ( 12891654 )
2003
28
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. ( 12368991 )
2002
29
Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency. ( 12200739 )
2002
30
The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: biochemical findings in two patients. ( 10896284 )
2000
31
Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency. ( 10522874 )
1999
32
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family. ( 9309516 )
1997
33
Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises. ( 10728198 )
1997
34
Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology. ( 1281049 )
1992
35
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:

66
id 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
id 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.749C> T (p.Ser250Phe) single nucleotide variant Pathogenic rs137853208 GRCh37 Chromosome 7, 50571723: 50571723
3 DDC NM_001082971.1(DDC): c.925T> C (p.Phe309Leu) single nucleotide variant Pathogenic rs137853209 GRCh37 Chromosome 7, 50563067: 50563067
4 DDC NM_001082971.1(DDC): c.439A> C (p.Ser147Arg) single nucleotide variant Pathogenic rs137853210 GRCh37 Chromosome 7, 50597037: 50597037
5 DDC NM_001082971.1(DDC): c.272C> T (p.Ala91Val) single nucleotide variant Pathogenic rs137853211 GRCh37 Chromosome 7, 50607656: 50607656
6 DDC NM_001082971.1(DDC): c.823G> A (p.Ala275Thr) single nucleotide variant Pathogenic rs137853212 GRCh37 Chromosome 7, 50566899: 50566899
7 DDC DDC, IVS6DS, A-T, +4 single nucleotide variant Pathogenic
8 DDC NM_001082971.1(DDC): c.1040G> A (p.Arg347Gln) single nucleotide variant Pathogenic rs201951824 GRCh38 Chromosome 7, 50476625: 50476625

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

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
16 ExPASy
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65 SNOMED-CT via Orphanet
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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