Aromatic l-amino acid decarboxylase deficiency

Summarized by Plex Health
Last Updated: 02 May 2022

Aromatic l-amino acid decarboxylase deficiency is a very unusual hereditary disorder identified by decreased activity of aromatic l-amino acid decarboxylase, an enzyme involved in the structure of neurotransmitters, which are liable for the communication in between neurons in the nervous system. Affected people can show up normal at birth, most will develop symptoms during the first months of life. AADC deficiency most commonly leads to decreased muscular tissue tone, movement disorders including abnormal eyes movement, developmental hold-up, restricted development, and interruption of the part of the nerves responsible for unconscious inflection of body functions such as heart beat. Medicine is readily available to take care of the symptoms, however response to therapy considerably differs amongst affected people, and an optimum treatment program can be challenging to accomplish. Scroll back up to restore default view. Symptoms and signs of AADC deficiency usually appear in the first year of life. People with AADC deficiency might experience episodes called oculogyric dilemmas that involve abnormal turning of the eyeballs; extreme irritability and anxiety; and pain, muscular tissue spasms, and uncontrolled movements, specifically of the head and neck. AADC deficiency might impact the autonomic nerves, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Symptoms and signs of AADC deficiency tend to aggravate late in the day or when the individual is weary, and boost after sleep. Symptoms of aromatic l-amino acid decarboxylase deficiency normally present during the first year of life.

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