Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2023 To 2033 thelansis.com

Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency is a rare autosomal recessive disorder known as Aromatic L-amino acid decarboxylase deficiency is attributed to mutations in the DDC gene. This disorder arises from a deficiency in the enzyme aromatic L-amino acid decarboxylase (AADC), which generally converts L-dopa and 5-hydroxytryptophan into dopamine and serotonin, respectively. The typical presentation of AADC deficiency in infants includes muscular hypotonia, oculogyric crises, and developmental delay. Additional features may include disturbances in thermoregulation, autonomic dysfunction, sleep disorders, dystonia, nasal congestion, feeding problems, and intellectual disability. The onset of initial symptoms can occur from the neonatal period up to 12 months of age, with a mean onset of around 2-3 months. While most reported cases exhibit a severe phenotype characterized by profound motor developmental impairment, some individuals present with a milder to moderate phenotype, demonstrating the ability to walk independently and functionally manage daily activities. Symptoms may evolve with age. Diagnosis of AADC deficiency involves assessing biogenic amines in cerebrospinal fluid (CSF), enzyme activity in plasma, and mutational analysis. Newborn screening programs may include the measurement of 3-O-methyldopa (3-OMD) in dried blood spots. Clinical symptoms of AADC deficiency can overlap with other disorders affecting biogenic amines or tetrahydrobiopterin (BH4) metabolism, necessitating biochemical investigation of CSF as a first step. PNPO deficiency, although presenting with a similar biochemical pattern in CSF, manifests differently clinically. Treatment of AADC deficiency poses challenges, especially in severe cases, as symptoms are often refractory. A multidimensional treatment approach involving dopamine agonists, monoamine oxidase inhibitors, pyridoxine phosphate, anticholinergic, and antiepileptic drugs is necessary. Supportive therapies such as physiotherapy and speech therapy are also recommended. Clinical trials have shown promising results with gene therapy, leading to improvements over five years, including reduced frequency of oculogyric crises, weight recovery, and enhanced motor and cognitive abilities. The prognosis of AADC deficiency largely depends on disease severity, with some mutations associated with a more severe phenotype. Childhood mortality risk is significant in cases of severe disease progression.

Thelansis’s “Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2023 To 2033″ covers disease overview, epidemiology, drug utilization, prescription share analysis, competitive landscape, clinical practice, regulatory landscape, patient share, market uptake, market forecast, and key market insights under the potential Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency treatment modalities options for eight major markets (USA, Germany, France, Italy, Spain, UK, Japan, and China).

KOLs insights of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency across 8 MM market from the centre of Excellence/ Public/ Private hospitals participated in the study. Insights around current treatment landscape, epidemiology, clinical characteristics, future treatment paradigm, and Unmet needs.

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