Page 50 - Read Online

Pintos-Morell et al. Rare Dis Orphan Drugs J 2024;3:12 https://dx.doi.org/10.20517/rdodj.2023.52 Page 9 of 15

Glut-1 deficiency SLC2A1 Ketogenic diet
Cystinosis (Infantile Nephropathic) CTNS Cysteamine, Cysteamine slow release, cysteamine eye drops,
Carnitine, GH, vit D, phosphate, citrate, kidney transplant
# # #
Mucopolysaccharidosis type 1 (MPS1) IDUA Laronidase ERT, BMT, HSCT
# # #
Mucopolysaccharidosis type 2 (MPS2) IDS Idursulfase ERT, BMT, HSCT
Mucopolysaccharidosis type IVA # GALNS # Elosulfase alpha ERT, HSCT #
# # #
Mucopolysaccharidosis type VI ARSB Galsulfase ERT, HSCT
Mucopolysaccharidosis type VII # GUSB # Mepsevii ERT, HSCT #
# # #
Pompe disease (GSD type 2) GAA Avalglucosidase alfa and alglucosidase alfa ERT
Fabry disease # GLA # Agalsidase alfa and beta ERT, pegunigalsidase ERT, migalastat
#
PCT
Gaucher disease # GBA # ERT: imiglucerase; velaglucerase alfa; and taliglucerase alfa;
#
SRT: miglustat, eliglustat; PCT: Ambroxol
# #
Acid sphingomyelinase deficiency -ASMD1 SMPD1 Recombinant human acid sphingomyelinase, ERT: olipudase
#
alfa
# # #
Niemann-Pick type C NPC1 SRT: miglustat
Neuronal Ceroid lipofuscinosis (CLN2) # TPP1 # Cerliponase alfa ERT #
# # #
Lysosomal Acid lipase deficiency (LALD) LIPA Sebelipase alfa ERT
Metachromatic leukodystrophy (MLD) # ARSA # HSCT, BMT, atidarsagene autotemcel (Libmeldy) #
# # #
Krabbe disease GALC HSCT, BMT
Alpha-mannosidosis # MAN2B1 # Velmanase alfa ERT #
AADC deficiency DDC Pyridoxine/pyridoxal phosphate, folinic acid, dopamine
agonists, MAO B inhibitors
Gene therapy eladocagene exuparvovec (Intracerebral
TM
Upstaza )
PNP deficiency (SCID) PNP HSCT
TM
ADA deficiency (SCID) ADA PEG-ADA ERT, HSCT, Gene therapy Strimvelis
Abetalipoproteinemia MTTP Vitamin E, A, D
Adenine phosphoribosyltransferase deficiency APRT Allopurinol
Barth syndrome TAZ (Tafazzin) Cardiac transplantation, granulocyte colony-stimulating factor
(G-CSF), uncooked cornstarch given prior to bedtime,
elamipretide
Cerebrotendinous xanthomatosis CYP27A1 Chenodeoxycholic acid (CDCA), cholic acid
Crigler-Najjar syndrome type I UGT1A1 Intensive phototherapy, albumin infusions, and plasma
exchanges, liver transplantation, gene therapy (http://
clinicaltrials.gov/show/NCT03466463)
Familial chylomicronemia syndrome LPL, APOC2, LMF1, APOA5, Low-caloric diet, fibrates
GPIHBP1
Familial hypercholesterolemia APOB, LDLR, PCSK9 diet, statin, evinacumab, ezetimibe, apheresis, evolocumab,
lomitapide
Fructose-1,6-bisphosphatase deficiency FBP1 Restriction of fructose or sucrose, avoid prolonged fasting, IV
glucose during metabolic decompensation
Galactokinase deficiency GALK1 Lactose/galactose-restricted diet
Glycogen storage disease type I G6PC1 Restriction of fructose or sucrose, avoid prolonged fasting, IV
SLC37A4 glucose during metabolic decompensation
Glycogen storage disease type III AGL High-protein diet with corn starch supplementation
Homocystinuria-megaloblastic anemia MTTR, MTR Vitamin B12
Combined immunodeficiency and MTHFD1 Hydroxocobalamin, folinic acid, betaine
megaloblastic anemia with or without
hyperhomocysteinemia
Primary coenzyme Q10 deficiency COQ4, COQ6 Coenzyme Q10
COQ2
Pyridoxine-dependent epilepsy ALDH7A1 Pyridoxine, lysine-restricted diet, arginine supplementation
Pyridoxamine 5’- phosphate oxidase PNPO Pyridoxal 5’-phosphate (PLP) and pyridoxine
deficiency
Pyridoxal 5’-phosphate binding protein PNPBP Pyridoxine (first line) and Pyridoxal 5’-phosphate
deficiency