ACAD9 Deficiency

Summarized by Plex Health
Last Updated: 02 May 2022
an atypical presentation of acad9 deficiency: diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach "an atypical presentation of acad9 deficiency: diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach", by . f0005: A. Axial T2 image showing hyperintensity in cerebral peduncles. B. Diffusion weighted image showing corresponding signal. C. Spectroscopy image with lactate peak at 1.3 ppm....

ACAD9 deficiency is a problem that varies in intensity and can cause muscle weak point, heart troubles, and intellectual disability. Mildly affected individuals with ACAD9 deficiency usually experience nausea or vomiting and extreme fatigue in response to exercise. People with ACAD9 deficiency who are moderately affected have low muscle mass tone and weakness in the muscle mass used for movement. Individuals with ACAD9 deficiency that endure previous early childhood often have intellectual handicap and may develop seizures. Unusual signs and symptoms of ACAD9 deficiency consist of movement disorders and issues with liver and kidney function. Some individuals with ACAD9 deficiency have had enhancement in muscle toughness and a reduction in lactic acid levels with therapy.

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