Aromatic L-Amino Acid Decarboxylase Deficiency

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OMIM 57 608643 Disease Ontology 12 DOID:0090123 ICD10 33 G24.8 Orphanet 59 ORPHA35708 UMLS via Orphanet 74 C0342686 C1291564 ICD10 via Orphanet 34 G24.8

MedGen 42 C1291564 MeSH 44 D000592 KEGG 37 H01161 SNOMED-CT via HPO 69 258211005 118930001 32003007 398206004 398302004 11934000 63251006 18963009 161857006 312230002 364538006 415690000 415691001 52613005 224958001 43105007 127324008 17450006 86854008 232209000 267100006 68235000 267060006 62315008 14760008 225595004 16331000 235595009 698065002 53888004 45007003 246586009 366575004 more UMLS 73 C1291564 C0342686

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...

Clinical features from OMIM:

608643

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