4-Hydroxybutyric Aciduria

4-Hydroxybutyric Aciduria

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Brain & Nerve
Bone, Muscle, & Joint
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Contributed byMaulik P. Purohit MD MPHOct 31, 2020

The topic 4-Hydroxybutyric Aciduria you are seeking is a synonym, or alternative name, or is closely related to the medical condition Succinic Semialdehyde Dehydrogenase Deficiency.

Quick Summary:

  • Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency is a condition characterized by low levels of the enzyme SSADH in the body. It is an inborn error of metabolism, a condition in which the metabolism (chemical reactions in our body) is affected due to a defective or absent enzyme or protein
  • SSADH Deficiency is a rare genetic disorder, in which there is a mutation in the ALDH5A1 gene that encodes (contains the information necessary for the proper synthesis of) the SSADH enzyme
  • The individuals affected could have a number of nonspecific symptoms such as delayed developmental milestones, poor speech and language ability, improper gross and fine motor skill development, mental retardation, and behavioral disturbances
  • Though the symptoms begin to manifest in early infancy, SSADH Deficiency disorder is usually diagnosed only during childhood, or sometimes, only into adulthood
  • The treatment for SSADH Deficiency is mainly focused on the management of symptoms. The prognosis of the disorder depends upon many factors and it varies from one individual to another

Please find comprehensive information on Succinic Semialdehyde Dehydrogenase Deficiency regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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