"Metabolic Medicine Cabinet" of life-saving/life-altering drugs

1.       Vitamins:

·         B12 (hydroxocobalamin)

·         Thiamine

·         Pyridoxine (pyridoxal phosphate)

·         Biotin

·         Folinic acid

2.       “Cleansing” drugs

·         Sodium benzoate + sodium phenylacetate (IV Ammonul) and Sodium phenylbutyrate {PO Buphenyl)

·         Carnitine, IV and PO

·         Glycine, PO

·         Betaine, PO

·         Cysteamine, PO

·         Copper chelators

3.       Replacement therapies

·         Arginine (IV and enteral), serine (enteral)

·         L-DOPA [plus 5HTP and BH4, usually not expected in stock])

·         Isoleucine (+/- valine), for PO/NG use in MSUD treatment (when leucine still high but other BCAA become critically low)

·         Mannose (also not expected in stock—for CDG type 1b)

·         Enzyme replacement therapies (not emergency medications -- Cerezyme, VPRIV, Fabrazyme, Replagal, Aldurazyme, Elaprase, Lumizyme, …)

4.       Inhibiting and stimulating drugs

·         Carbamylglutamate (investigational- for NAGS deficiency)

·         Heme-arginate (porphyria, but a: problems keeping in stock/ short shelf life, and b: rare neurovisceral porphyria in childhood)

·         NTBC (nitisinone, for tyrosimemia type 1), chenodeoxycholic acid (for cerebrotend xanthomatosis, plus cholic for bile acid synth defects, etc.)

-BB 30-Mar-2011