Aromatic L-Amino Acid Decarboxylase Deficiency (AADCD)

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Disease Ontology 12 DOID:0090123 OMIM 58 608643 KEGG 38 H01161 MeSH 45 D000592 ICD10 via Orphanet 35 G24.8

UMLS via Orphanet 75 C0342686 C1291564 Orphanet 60 ORPHA35708 MedGen 43 C1291564 SNOMED-CT via HPO 70 118930001 11934000 127324008 14760008 161857006 16331000 17450006 18963009 224958001 225595004 232209000 235595009 246586009 258211005 267060006 267100006 312230002 32003007 364538006 366575004 398206004 398302004 415690000 415691001 43105007 45007003 52613005 53888004 62315008 63251006 68235000 698065002 86854008 more UMLS 74 C0342686 C1291564

NIH Rare Diseases : ⁵⁴ 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 chromophobe renal cell carcinoma and renal oncocytoma, 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 Dihydroxyphenylalanine and Dopa Decarboxylase have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and prostate, and related phenotypes are ptosis and emotional lability

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 : ²⁶ 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 : ⁵⁸ 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 : ⁷⁶ 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 : ⁷⁷ Aromatic L-amino acid decarboxylase (AADC or AAAD), also known as DOPA decarboxylase (DDC), tryptophan... more...

Clinical features from OMIM:

608643

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