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Aromatic L-Amino Acid Decarboxylase Deficiency

AADC deficiency


  • She became pale and sweaty with hypothermia (33.5 C), bradycardia (45 bpm), and acidosis and presented a generalized seizure.[ncbi.nlm.nih.gov]
  • Clinical presentations, treatment response, outcome and mutations of DOPA decarboxylase (DDC) gene were analyzed.[ncbi.nlm.nih.gov]
  • Of 12 patients enrolled, clinical presentations included global developmental delay with generalized hypotonia in 12 (100%), dystonia in 12 (100%), oculogyric crisis in 12 (100%), and excessive sweating in 8 (67%).[ncbi.nlm.nih.gov]
  • At presentation, he had an exacerbation of diarrhoeal symptoms resulting in dehydration and malnutrition with a concurrent severe chest infection.[ncbi.nlm.nih.gov]
  • The authors present six patients with AADC deficiency and review seven cases from the literature. All patients showed reduced catecholamine metabolites and elevation of 3-O-methyldopa in CSF.[ncbi.nlm.nih.gov]
Poor Feeding
  • 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.[uniprot.org]
  • Later, main neurological features were truncal muscular hypotonia, hypokinesia, oculogyric crises and rigor. Three patients had single seizures.[ncbi.nlm.nih.gov]
Chronic Diarrhea
  • A 5-year-old girl with a medical history of chronic diarrhea presented three episodes of severe hypoglycemia (20 mg/dL) between ages 3 and 5 years.[ncbi.nlm.nih.gov]
  • All patients presented distinct extraneurological symptoms, such as hypersalivation, hyperhidrosis, nasal congestion, sleep disturbances and hypoglycaemia.[ncbi.nlm.nih.gov]
  • Clinical Presentation: symptoms may include temperature instability, ptosis of the eyelids, hypersalivation, distal chorea, swallowing difficulties, drowsiness, irritability, truncal hypotonia, oculogyric crises, pinpoint pupils.[ndrf.org]
  • Selegiline has been reported to improve oculogyric crises, muscle tone and strength, gastro-intestinal function, hypersalivation and sleep patterns, but according to some reports such effects were transient. 9 Pyridoxine (usual dosage of 100-400 mg/day[hkmj.org]
  • This report presents the case of an adult male with aromatic L-amino acid decarboxylase deficiency who developed serious cardiac rhythm disturbances during treatment with intravenous dopamine and norepinephrine for severe hypotension.[ncbi.nlm.nih.gov]
  • 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[ghr.nlm.nih.gov]
  • When he was 11 years old, there was an episode of protracted hypotension with bradycardia (for 5 hours), which followed sedation (with diazepam 0.1 mg/kg) for an oesophagogastroduodenoscopy.[hkmj.org]
  • European journal of medical genetics , 2018 2018 Congenital eyelid ptosis, decreased glomerular filtration, and orthostatic hypotension: Questions T Wassenberg, M Willemsen, H Dijkman, J Deinum, L Monnens Pediatric Nephrology 32 (7), 1169-1170 , 2017[scholar.google.it]
  • Drug-induced dyskinesias Chorea Dystonia (disorder of muscle control) Diurnal variation/improvement of neurologic symptoms after sleep Autonomic dysfunction Diaphoresis Temperature instability Nasal congestion Ptosis/pupillary changes (droopy eyelids) Hypotension[aadcresearch.org]
  • All patients presented distinct extraneurological symptoms, such as hypersalivation, hyperhidrosis, nasal congestion, sleep disturbances and hypoglycaemia.[ncbi.nlm.nih.gov]
Small Hand
  • In addition, we observed that all patients (100.0%) had small hands and feet.[ncbi.nlm.nih.gov]
Psychomotor Retardation
  • These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since early infancy.[ncbi.nlm.nih.gov]
  • Our male patient presented with developmental delay, extreme hypotonia, oculogyric crises, and irritability.[ncbi.nlm.nih.gov]
  • The index patient and her brother both had poor sucking power and feeding difficulty at birth and episodes of oculogyric crises, truncal hypotonia, limb hypertonia, sleep disturbances, irritability, and motor delay.[ncbi.nlm.nih.gov]
  • […] those previously reported, including symptoms onset before age 1 year with features of severe floppiness, oculogyric crises, athetoid movement, prominent startle response, tongue thrusting, ptosis, paroxysmal diaphoresis, nasal congestion, diarrhea, irritability[ncbi.nlm.nih.gov]
  • Clinical Presentation: symptoms may include temperature instability, ptosis of the eyelids, hypersalivation, distal chorea, swallowing difficulties, drowsiness, irritability, truncal hypotonia, oculogyric crises, pinpoint pupils.[ndrf.org]
  • 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.[ghr.nlm.nih.gov]


  • Metabolic workup, including thyroid function tests, and determination of ammonia, lactate, and glucose levels and urine amino acids screening yielded nil abnormal.[hkmj.org]
Fasting Hypoglycemia
  • OBJECTIVE/CONTEXT: Long-fasting hypoglycemia in children may be induced by neurotransmitter disorders.[ncbi.nlm.nih.gov]
Liver Biopsy
  • Confirmation of a deficiency of the enzyme in the twins was established by measurement of levodopa decarboxylase activity in plasma and levodopa and 5-hydroxytryptophan decarboxylase activity in liver biopsy ( Hyland and Clayton 1990 ; Hyland et al 1992[medlink.com]


  • Treatment response was variable. Two groups of patients were detected: Group I (five males) responded to treatment and made developmental progress.[ncbi.nlm.nih.gov]
  • Response to current treatments is often disappointing. We have reviewed the literature to look for improvements to the current treatment strategy and also for new directions for AADC deficiency treatment.[ncbi.nlm.nih.gov]
  • Therefore, close cardiac monitoring is indicated at baseline and during treatment with pressors.[ncbi.nlm.nih.gov]
  • Combined treatment with pyridoxine, tranylcypromine, and bromocriptine produced some clinical improvement.[ncbi.nlm.nih.gov]
  • Responses to treatment interventions in these patients have been mixed. Clinical and biochemical evaluation and therapeutic trials were performed in two children over a 26-month period.[ncbi.nlm.nih.gov]


  • Treatment with dopamine agonists and MAO inhibitors is beneficial, yet long-term prognosis is unclear. To delineate the clinical and molecular spectrum of AADC deficiency, its management, and long-term follow-up.[ncbi.nlm.nih.gov]
  • Response to therapy has been variable and unsatisfactory; the overall prognosis is guarded. METHODS: To gain more insight into this rare disorder we collected clinical and laboratory data of nine German patients.[ncbi.nlm.nih.gov]
  • Treatment options are limited, in many cases not beneficial, and prognosis is uncertain.[ncbi.nlm.nih.gov]
  • April 13, 2004 ; 62 (7) Views & Reviews Clinical features, treatment, and prognosis R. Pons , B. Ford , C. A. Chiriboga , P. T. Clayton , V. Hinton , K. Hyland , R. Sharma , D. C.[neurology.org]


  • During the 17-hour fast test performed to determine the etiology of her hypoglycemia, insulin and C-peptide were appropriately low, and human GH, IGF-I, cortisol, amino acids, and acylcarnitines were in the usual range for fasting duration.[ncbi.nlm.nih.gov]


  • To provide a basis for improving the understanding of the epidemiology, genotype–phenotype correlation and outcome of these diseases their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry[en.wikipedia.org]
Sex distribution
Age distribution


  • This review article illustrates the pathophysiology, diagnostic methods, and therapeutic strategies for patients with AADC deficiency.[dovepress.com]
  • […] trafficking/metabolism may be compromised in AADC deficiency. 5-HTP was demonstrated to potentially be mildly toxic to human neuroblastoma cells but not astrocytoma cells; however the concentrations required for this response are likely to be higher than pathophysiological[discovery.ucl.ac.uk]


  • OBJECTIVES: To develop a diagnostic platform for preimplantation genetic diagnosis (PGD) and prenatal genetic diagnosis (PND) to prevent births of aromatic L-amino acid decarboxylase deficiency (AADC) patients.[ncbi.nlm.nih.gov]
  • Prevention - Aromatic amino acid decarboxylase deficiency Not supplied. Diagnosis - Aromatic amino acid decarboxylase deficiency Genetic Testing Registry Prognosis - Aromatic amino acid decarboxylase deficiency Not supplied.[checkorphan.org]
  • However inhibiting AADC prevented the GSH increase induced by L-dopa. Furthermore dopamine but not L-dopa, increased GSH release from human astrocytoma cells, which do not express AADC activity.[discovery.ucl.ac.uk]
  • However DDC inhibitors can be used to prevent premature L-DOPA metabolism in the blood, and thereby both increase efficacy and reduce side effects (Burkhard et al., 2001).[novusbio.com]
  • […] accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 6 October 2016 recommending the granting of this designation. the seriousness of the condition; the existence of alternative methods of diagnosis, prevention[ema.europa.eu]

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