4 days ago · SSADH deficiency also leads to abnormal accumulation of the compound succinic semialdehyde, which is reduced or converted to GBH (gamma-hydroxybutyric acid).

6 days ago · MADD, also known as glutaric acidemia II or glutaric aciduria II, can be caused by mutations in at least 3 different genes.

2 days ago · Orotic aciduria is a rare genetic disorder characterized by the accumulation of orotic acid in the body, leading to various health problems. One of the ...

5 days ago · Screening for Core disorders may show information about the following disorders: 2-Methylbutyrylglycinuria (2MBG); 2-Methyl-3-Hydroxybutyric Aciduria (2M3HBA) ...

1 day ago · 1. f. Med. Acidez de la orina. Real Academia Española ...

6 days ago · Learn about conditions screened across Australia, and the consideration of new conditions for inclusion in Australia's newborn bloodspot screening programs.

5 days ago · This group is made simple for people to be aware of there rare genetic disorders. Reason I made this group is because i was born with glutaric acidemia type 1, ...

3 days ago · L Hagenfeldt et al. 3-Hydroxydicarboxylic aciduria — a fatty acid oxidation defect with severe prognosis. J Pediatr. (1990). JH Galloway et al. Abnormal ...

4 days ago · MELAS is characterized by 'stroke-like' episodes, typically in childhood or early adulthood (90% present before 40 years of age).

4 days ago · Bile acid synthesis disorders (BASDs) are a group of rare metabolic disorders characterized by defects in the creation (synthesis) of bile acids.