Introduction
Pocket Metab
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BH4 Patient
List of associated diseases and any hint to further information based on the descripton or synonyms to the accession number HMDB00522
3-Methylglutaconic acid
3-methylglutaconyl-CoA hydratase is involved in the metabolism process of 3-methylglutaconic acid. 3-Methylglutaconic acid accumulates in patients with a deficiency of this enzyme and a large amount of 3-methylglutaconic acid appear in urine. (Wikipedia)
Please note: All linked information should be double checked for accuracy!
3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
BETA-MANNOSIDOSIS
3-METHYLGLUTACONIC ACIDURIA (TYPE I)
3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED
LETHAL INFANTILE CARDIOMYOPATHY: X-LINKED CARDIOSKELETAL MYOPATHY (BARTH SYNDROME)
3-METHYLGLUTACONIC ACIDURIA (TYPE IV)
PEARSON SYNDROM
SMITH-LEMLI-OPITZ SYNDROME
CREATINE DEFICIENCY, GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
3-METHYLGLUTACONIC ACIDURIA (TYPE III)
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