<unk>  can be found by genetic testing. This is often done at birth as part of newborn screening in several states throughout the United States. Results are found through testing a small amount of blood gathered through a heel prick of the infant. As not all states require that this test be done, it is often skipped in those where such testing is not required.<unk>  can also be found by sequencing the BTD gene, particularly in those with a family history or known familial gene mutation.
Biotinidase deficiency
D-bifunctional protein deficiency
Glutaminase deficiency
Aromatic L-amino acid decarboxylase deficiency
Ornithine aminotransferase deficiency
Enolase deficiency
Arginine:glycine amidinotransferase deficiency
Holocarboxylase synthetase deficiency