Aromatic L-Amino Acid Decarboxylase Deficiency (AADCD)

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Disease Ontology 12 DOID:0090123 OMIM 56 608643 KEGG 36 H01161 MeSH 43 D000592 NCIt 49 C142085 SNOMED-CT 67 124600004

ICD10 via Orphanet 33 G24.8 UMLS via Orphanet 72 C0342686 C1291564 Orphanet 58 ORPHA35708 MedGen 41 C1291564 SNOMED-CT via HPO 68 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 71 C0342686 C1291564

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. 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 dopamine beta-hydroxylase deficiency, and has symptoms including myoclonus, constipation 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 Pharmaceutical Solutions and Dopa Decarboxylase have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and testes, and related phenotypes are global developmental delay 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.

NIH Rare Diseases : ⁵² 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 : ⁵⁶ 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)

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...

Clinical features from OMIM:

608643

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