One of, if not the most common form of organic acidemia,<unk>  is not apparent at birth as symptoms usually do not present themselves until proteins are added to the infant's diet. Because of this, symptoms typically manifest anytime within the first year of life. Due to the severity and rapidity in which this disorder can cause complications when left undiagnosed, screening for<unk>  is often included in the newborn screening exam. Because of the inability to properly break down amino acids completely, the byproduct of protein digestion, the compound<unk>  acid, is found in a disproportionate concentration in the blood and urine of those afflicted. These abnormal levels are used as the main diagnostic criteria for diagnosing the disorder. This disorder is typically determined through the use of a urine analysis or blood panel. The presence of<unk>  can also be suspected through the use of a CT or MRI scan or ammonia test, however these tests are by no means specific and require clinical and metabolic/correlation. Elevated levels of ammonia, glycine, and ketone bodies may also be present in the blood and urine. Types<unk>  has varying diagnoses, treatment requirements and prognoses, which are determined by the specific genetic mutation causing the inherited form of the disorder. The following are the known genotypes responsible for<unk> : OMIM Name Gene cblA type<unk> A cblB type<unk> B cblC type<unk> CHC cblD type<unk> DHC cblF type LMBRD1 mut type MUT The mut type can further be divided in mut0 and mut- subtypes, with mut0 characterized by a complete lack of methylmalonyl-CoA mutase and more severe symptoms and mut- characterized by a decreased amount of mutase activity. Mut-, cblB, and cblA versions of<unk>  have been found to be cobalamin responsive. Mut0 is a nonresponsive variant.
Methylmalonic acidemia
Hawkinsinuria
Phenylketonuria
Alkaptonuria
Glutaric acidemia type 2
Orotic aciduria
3-Methylglutaconic aciduria
Urocanic aciduria