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Page 6 of 15 Pintos-Morell et al. Rare Dis Orphan Drugs J 2024;3:12 https://dx.doi.org/10.20517/rdodj.2023.52

thiolase
3-methyl crotonyl CoA MCCC1/MCC2 IV glucose during acute episodes, avoid fasting, X X X
carboxylase (MCC) carnitine, protein-restricted diet
Propionic acidemia (PA) PCCA, PCCB Diet, carnitine, biotin, metronidazole, liver X X X
transplantation, N-carbamylglutamate
MCAD medium-chain acyl-CoA ACADM Avoid fasting X X X
dehydrogenase (MCAD )
deficiency
VLCAD very-long-chain acyl- ACADVL Avoid fasting, carnitine, restrict LCFA, X X X
CoA dehydrogenase deficiency bezafibrate, triheptanoin
(VLCAD)
long-chain 3-OH acyl-CoA HADHA, HADHB IV glucose during acute episodes, avoid fasting, X X X
dehydrogenase deficiency carnitine, restrict LCFA, bezafibrate, MCT,
(LCHAD) triheptanoin
mitochondrial trifunctional
protein (TFP) deficiency
carnitine palmitoyl-1 transferase CPT1A Avoid fasting, low-fat and high-carbohydrate X X X
(CPT-1) deficiency diet, MCT, triheptanoin
carnitine palmitoyl-2 CPT2 Bezafibrate, high-carbohydrate and low-fat diet, X X
transferase (CPT-2) deficiency carnitine, MCT, triheptanoin
carnitine-acylcarnitine SLC25A20 High-carbohydrate and low-fat diet, MCT, X X
translocase (CACT) deficiency frequent feeds, carnitine, avoid fasting,
triheptanoin
short-chain acyl-CoA ACADS As most individuals are asymptomatic, there is X X
dehydrogenase (SCAD) no need for treatment but careful follow-up
deficiency
Isobutyrylglycinuria ACAD8 As most individuals are asymptomatic, there is X
no need for treatment but careful follow-up
multiple acyl-CoA ETFDH Riboflavin, carnitine, glycine, Coenzyme Q10 X X
dehydrogenase deficiency supplementation, fat restriction, avoidance of
(MADD) fasting, and a diet rich in carbohydrates
CUD/CTD (carnitine SLC25A20 High-carbohydrate and low-fat diet, medium X X
uptake/carnitine transporter chain triglycerides, frequent feeds, carnitine,
deficiency) avoid fasting, triheptanoin
X-linked Adrenoleukodystrophy ABCD1 HSCT, BMT, gene therapy (elivaldogene) Pilot X Pilot
(X-ALD)
Cystic Fibrosis (CF) CFTR Ivacaftor, tezacaftor, lumacaftor, pancreatic X X X
enzyme, inhaled antibiotics, dornase alfa
Mucopolysaccharidosis type 1 IDUA ERT: laronidase, BMT, HSCT X Regional
(MPS1)
Pompe disease (GSD II) GAA ERTs: avalglucosidase alfa and alglucosidase Regional
alfa
Fabry disease GLA ERTs: agalsidase alfa, agalsidase beta, Regional
pegunigalsidase alpha PCT: migalastat
Gaucher disease GBA ERTs: imiglucerase; velaglucerase alfa; and Regional
taliglucerase alfa.
SRT: miglustat, eliglustat.
PCT: Ambroxol
Metachromatic leukodystrophy ARSA HSCT - BMT, atidarsagene autotemcel Regional
(MLD) (Libmeldy)

NBS in Spain is very heterogeneous among the autonomous communities and cities. In this table, the case of Andalucía, one of the most
populated regions of Spain and the site where one of the authors (RY) is responsible for the NBS, is presented as representative of the different
communities of Spain. X: condition included. For Italy, X means performed in all regions of the country. Regional: only in some regions of the
country. Pilot: still under evaluation. National NBS in Italy includes 48 conditions by law; national NBS in Spain includes a minimum core of
7 diseases, but a variable expanded NBS is in place in most of the regions, such as Andalucía (35 conditions). In Netherlands, the NBS screening
program is standardized across the whole country. ERT: Enzyme replacement therapy; SRT: substrate reduction therapy; PCT: pharmacological
chaperone therapy; BMT: bone marrow transplant; HSCT: hematopoietic stem cell transplantation; MCT: medium-chain triglycerides; LCFA: long-
chain fatty acids; IV: intravenous; IM: intramuscular.

only in exceptional circumstances, within 72 h, while in other countries, the regular post or regular post
with extra care and velocity, called medical post, is being used.