Aromatic L-amino acid decarboxylase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: DOPA DECARBOXYLASE DEFICIENCY
DDC DEFICIENCY
aadc deficiency
Number of Symptoms 43
OrphanetNr: 35708
OMIM Id: 608643
ICD-10: G24.8
UMLs: C1291564
MeSH:
MedDRA:
Snomed: 124600004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of catecholamine synthesis
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000271) Abnormality of the face 108 / 7739
2
 (HPO:0012384) Rhinitis 18 / 7739
3
 (HPO:0000508) Ptosis 459 / 7739
4
 (HPO:0000616) Miosis 11 / 7739
5
 (HPO:0001336) Myoclonus 115 / 7739
6
 (HPO:0001266) Choreoathetosis 57 / 7739
7
 (HPO:0002360) Sleep disturbance 113 / 7739
8
 (HPO:0002509) Limb hypertonia 13 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0003785) Decreased CSF homovanillic acid 7 / 7739
11
 (HPO:0002451) Limb dystonia 16 / 7739
12
 (HPO:0000737) Irritability 93 / 7739
13
 (HPO:0000712) Emotional lability 44 / 7739
14
 (HPO:0003487) Babinski sign 179 / 7739
15
 (HPO:0010553) Oculogyric crisis 5 / 7739
16
 (HPO:0001347) Hyperreflexia 363 / 7739
17
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
18
 (HPO:0002014) Diarrhea 225 / 7739
19
 (HPO:0011968) Feeding difficulties 240 / 7739
20
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
21
 (HPO:0002019) Constipation 194 / 7739
22
 (HPO:0000975) Hyperhidrosis 64 / 7739
23
 (HPO:0002615) Hypotension 52 / 7739
24
 (HPO:0005964) Intermittent hypothermia 2 / 7739
25
 (HPO:0005968) Temperature instability 5 / 7739
26
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
27
 (OMIM) Orofacial dystonia 2 / 7739
28
 (OMIM) Increased CSF, plasma, and urinary 5-hydroxytryptophan (5HTP) 1 / 7739
29
 (OMIM) Decreased plasma catecholamines 1 / 7739
30
 (OMIM) Paroxysmal oculogyric crises 1 / 7739
31
 (OMIM) Increased urinary dopamine and dopamine metabolites (paradoxical) 1 / 7739
32
 (OMIM) Increased CSF, plasma, and urinary 3-ortho-methyldopa (3-OMD) 1 / 7739
33
 (OMIM) Decreased CSF 5-hydroxyindoleacetic acid (5-HIAA) 2 / 7739
34
 (OMIM) Decreased whole blood serotonin 1 / 7739
35
 (OMIM) Impaired voluntary movement 1 / 7739
36
 (OMIM) Increased CSF, plasma, and urinary 3-methoxytyrosine 1 / 7739
37
 (OMIM) Paroxysmal sweating 1 / 7739
38
 (OMIM) Increased CSF, plasma, and urinary L-dopa 1 / 7739
39
 (OMIM) Opisthotonic posturing 4 / 7739
40
 (HPO:0003593) Infantile onset 249 / 7739
41
 (OMIM) Decreased activity of aromatic L-amino acid decarboxylase (AADC) 1 / 7739
42
 (OMIM) Autonomic abnormalities 1 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Hyland and Clayton (1990) and Hyland et al. (1992) reported male monozygotic twins born to first-cousin parents who presented at the age of 2 months with severe hypotonia and paroxysmal movements consisting of crying followed by extension of ...
Molecular genetics OMIM In 6 patients with AADC deficiency, Chang et al. (1998) identified 6 point mutations in the AADC gene (107930.0001-107930.0006). Four patients were homozygous, and 2 were compound heterozygous.

In monozygotic twin boys of Arabic descent with ...