aromatic L-amino acid decarboxylase deficiency
Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.
Also known as: AADC deficiency, aromatic L-amino acid decarboxylase deficiency, aromatic L-amino-acid decarboxylase deficiency, aromatic amino acid decarboxylase deficiency.
Category: General
Drugs labeled for aromatic L-amino acid decarboxylase deficiency
1 medication ingredients list an association with aromatic l-amino acid decarboxylase deficiency in current FDA labeling.
See all medications for aromatic L-amino acid decarboxylase deficiency →
Symptoms associated with aromatic L-amino acid decarboxylase deficiency
The following symptoms have been associated with aromatic L-amino acid decarboxylase deficiency in medical literature. Not everyone experiences the same symptoms.
Blepharospasm
A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm...
Constipation
Infrequent or difficult evacuation of feces....
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Hypotension
Low Blood Pressure, vascular hypotension....
Limb tremor
Information about Limb tremor....
Nasal congestion
Reduced ability to pass air through the nasal cavity often leading to mouth breathing....
Tests used to investigate aromatic L-amino acid decarboxylase deficiency
Healthcare providers may order these tests when evaluating aromatic L-amino acid decarboxylase deficiency. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with aromatic L-amino acid decarboxylase deficiency, which is why a clinical evaluation is important.
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Frequently Asked Questions
What is aromatic L-amino acid decarboxylase deficiency?
aromatic L-amino acid decarboxylase deficiency is a health condition described in medical literature. Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.
What are the symptoms of aromatic L-amino acid decarboxylase deficiency?
aromatic L-amino acid decarboxylase deficiency is associated with 7 symptoms in the medical literature we index, including Blepharospasm, Constipation, Diarrhea, Gastroesophageal reflux, Hypotension, Limb tremor. Symptoms vary widely between individuals.
How is aromatic L-amino acid decarboxylase deficiency diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with aromatic L-amino acid decarboxylase deficiency include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have aromatic L-amino acid decarboxylase deficiency, please discuss your symptoms with a qualified healthcare provider.