Health / Medical Topics

    3-Methylglutaconic Aciduria Type 1

    3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. Signs and symptoms include psychomotor developmental abnormalities, speech delay, weakness and spasm of the extremities, dystonia, and metabolic acidosis. (NCI Thesaurus)




    YOU MAY ALSO LIKE

    A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by…
    An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an…
    3-ketodihydrosphingosine reductase (332 aa, ~36 kDa) is encoded by the human KDSR gene. This protein is involved in sphingolipid metabolism.
    3-keto-steroid reductase (341 aa, ~38 kDa) is encoded by the human HSD17B7 gene. This protein is involved in estrogen biosynthesis.
    A product from the iodination of tyrosine. In the biosynthesis of thyroid hormones (THYROXINE and TRIIODOTHYRONINE), tyrosine is first iodized to…
    A hydroxysteroid dehydrogenase inhibitor that is specific for 3-hydroxysteroid dehydrogenase.

    © 1991-2023 The Titi Tudorancea Bulletin | Titi Tudorancea® is a Registered Trademark | Terms of use and privacy policy
    Contact