| ABCD1 | ATP-binding cassette domain 1 |
| AGAT | Arginine:glycine amidinotransferase |
| BCKD | Branched-chain alpha-ketoacid dehydrogenase complex |
| BVVL | Brown-Vialetto-Van Laere |
| CDG | Congenital disorders of glycosylation |
| CRTR | Creatine transporter |
| CSF | Cerebrospinal fluid |
| FAD | Flavin adenine dinucleotide |
| FL | Fazio-Londe |
| FMN | Flavin mononucleotide |
| GALT | Galatose-1-phosphate uridylyltransferase |
| GAMT | Guanidinoacetate N-methyltransferase |
| GLUT1 | Glucose transporter 1 |
| HSCT | Hematopoietic stem cell transplantation |
| NCL | Nneuronal ceroid lipofuscinoses |
| PDHC | Pyruvate dehydrogenase complex deficiency |
| MSUD | Maple syrup urine disease |
| X-ALD | X-linked adrenoleukodystrophy |
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