AADCD
MCID: ARM002
MIFTS: 56
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Aromatic L-Amino Acid Decarboxylase Deficiency (AADCD)
Categories:
Blood diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Aromatic L-Amino Acid Decarboxylase Deficiency:
Characteristics:Orphanet epidemiological data:58
aromatic l-amino acid decarboxylase deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy drug-induced dyskinesias occur in a subset of patients diurnal fluctuation of symptoms HPO:31
aromatic l-amino acid decarboxylase deficiency:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Gastrointestinal diseases Blood diseases
ICD10:
33
Orphanet: 58
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MedlinePlus Genetics :
43
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.Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). They may be lacking in energy (lethargic), feed poorly, startle easily, and have sleep disturbances. People with AADC deficiency may also experience episodes called oculogyric crises that involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck.AADC deficiency may affect the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension), backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), low blood sugar (hypoglycemia), fainting (syncope), and cardiac arrest.Signs and symptoms of AADC deficiency tend to worsen late in the day or when the individual is tired, and improve after sleep.
MalaCards based summary : Aromatic L-Amino Acid Decarboxylase Deficiency, also known as aadc deficiency, is related to oculogyric crisis and dystonia, dopa-responsive, due to sepiapterin reductase deficiency, and has symptoms including constipation, myoclonus and diarrhea. 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 Dopa Decarboxylase and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include whole blood and brain, and related phenotypes are hyperreflexia and sleep disturbance Disease Ontology : 12 An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. GARD : 20 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. 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) (Updated 05-Mar-2021) KEGG : 36 Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorders of monoamine neurotransmitter metabolism, clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction in infancy. Mutations in the gene encoding for the enzyme AADC (DDC) lead to a severe combined deficiency of serotonin and the two catecholamines dopamine and norepinephrine. UniProtKB/Swiss-Prot : 73 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 : 74 Aromatic L-amino acid decarboxylase (AADC or AAAD), also known as DOPA decarboxylase (DDC), tryptophan... more... |
Human phenotypes related to Aromatic L-Amino Acid Decarboxylase Deficiency:31 (show all 24)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:608643 (Updated 05-Mar-2021)UMLS symptoms related to Aromatic L-Amino Acid Decarboxylase Deficiency:constipation, myoclonus, diarrhea, sleep disturbances, dystonia, limb, nasal congestion (finding) |
Drugs for Aromatic L-Amino Acid Decarboxylase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Aromatic L-Amino Acid Decarboxylase Deficiency:40
Whole Blood,
Brain
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Articles related to Aromatic L-Amino Acid Decarboxylase Deficiency:(show top 50) (show all 113)
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ClinVar genetic disease variations for Aromatic L-Amino Acid Decarboxylase Deficiency:6 (show top 50) (show all 89)
UniProtKB/Swiss-Prot genetic disease variations for Aromatic L-Amino Acid Decarboxylase Deficiency:73
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Search
GEO
for disease gene expression data for Aromatic L-Amino Acid Decarboxylase Deficiency.
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Pathways related to Aromatic L-Amino Acid Decarboxylase Deficiency according to KEGG:36
Pathways related to Aromatic L-Amino Acid Decarboxylase Deficiency according to GeneCards Suite gene sharing:(show all 22)
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Cellular components related to Aromatic L-Amino Acid Decarboxylase Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Aromatic L-Amino Acid Decarboxylase Deficiency according to GeneCards Suite gene sharing:(show all 30)
Molecular functions related to Aromatic L-Amino Acid Decarboxylase Deficiency according to GeneCards Suite gene sharing:
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