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Ji et al. Rare Dis Orphan Drugs J 2023;2:26 https://dx.doi.org/10.20517/rdodj.2023.30 Page 7 of 19

2-Methyl-3-Hydroxybutyric aciduria No Yes, RUSP secondary condition Data unclear on childhood treatment
2-Methylbutyrylglycinuria No Yes, RUSP secondary condition Data unclear on childhood treatment
3-Methylcrotonyl-CoA carboxylase Yes Yes, RUSP core condition Several asymptomatic mothers ascertained from
deficiency NBS
3-Methylglutaconic aciduria (3MGA) Yes Yes, RUSP secondary condition Type I can be identified by C5OH, but treatment is
unclear; other forms are non-specific
Benign hyperphenylalaninemia Yes Yes, RUSP secondary condition Not treated in childhood-managed for maternal
PKU
Citrullinemia type II Yes Yes, RUSP secondary condition Data unclear on childhood treatment
Congenital adrenal hyperplasia (11β Yes Yes, although not included on 17-hydroxyprogesterone primary marker for 21-
Monooxygenase Deficiency) the RUSP hydroxylase deficiency
Duarte galactosemia No Yes, RUSP secondary condition Considered a benign variation
Ethylmalonic encephalopathy No Yes, although not included on Data unclear on childhood treatment.
the RUSP Isolated C4 elevation not investigated
Formiminoglutamic acidemia No Yes, although not included on Data unclear on childhood treatment.
the RUSP
Hypermethioninemia No Yes, RUSP secondary condition Sparse long-term data with treatment
Isobutyrylglycinuria No Yes, RUSP secondary condition Isolated C4 elevation not investigated
Malonic acidemia Yes Yes, RUSP secondary condition Some cases have been identified by NBS and
treated in Australia
Medium/short-chain L-3- No Yes, RUSP secondary condition Not currently screened in Australia
HydroxyacylCoA dehydrogenase
deficiency
Short chain Acyl-CoA dehydrogenase No Yes, although not included on Over ascertained in screen population. Isolated C4
deficiency the RUSP elevation not systematically investigated
(SCADD)
T-cell related lymphocyte deficiencies Yes Yes, RUSP secondary condition Incidental but actionable
Tyrosinemia type I Yes Yes, RUSP core condition Considered primary NBS, but tyrosine is not
reliable for diagnosing type I. Succinyl acetone is
the best marker
Tyrosinemia, transient No No Incidental finding-not treated.
Vitamin B12 deficiency Yes No Incidental-elevation of C3
X-linked agammaglobulinaemia Yes Yes, RUSP secondary condition Incidental but actionable
(C) Conditions included on the Californian newborn bloodspot screening panel which are not screened for in Australia
Argininemia Yes, secondary condition Arginine not screened
screened
Biotinidase** Yes, RUSP core condition
Carbamoylphosphate synthetase Yes, although not included on Low citrulline difficult to detect - classical cases
deficiency (CPS) the RUSP present before day 7
GAMT (guanidinoacetate
methyltransferase) deficiency
Glycogen storage disease Type II Yes, RUSP core condition
(Pompe)*
Gyrate atrophy of the choroid and Yes, although not included on Ornithine not measured-slowly progressive
retina the RUSP disorder - later onset.
Haemoglobinopathies* Yes, RUSP core condition
Hyperornithinemia- Yes, although not included on Rare disorder. Ornithine not measured
Hyperammonemia-Homocitrullinuria the RUSP
syndrome
Hyperprolinemia type I Yes, although not included on Treatment unclear - Proline not measured
the RUSP
Hyperprolinemia type II Yes, although not included on Treatment unclear- Proline not measured
the RUSP
Mucopolysaccharidosis type I* Yes, RUSP core condition
Mucopolysaccharidosis type II* Yes, RUSP core condition
Ornithine Transcarbamylase Yes, although not included on Low citrulline difficult to detect- classical cases
Deficiency (OTC) the RUSP present before day 7
X Linked adrenoleukodystrophy # Yes, RUSP core condition