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Aceruloplasminemia
(X-Linked) Adrenoleukodystrophy
AGAT Deficiency
α-Mannosidosis
l.o. Argininemia
l.o. Argininosuccinic Aciduria
Aspartylglucosaminuria
β-Ketothiolase Deficiency
Biotin Responsive Basal Ganglia Disease
Biotinidase Deficiency
Cerebral Folate Receptor-α Deficiency
Cerebrotendinous Xanthomatosis
l.o. Citrullinemia
Citrullinemia Type II
Cobalamin G Deficiency
Congenital Intrinsic Factor Deficiency
l.o. CPS Deficiency
Creatine Transporter Defect
Ethylmalonic Encephalopathy
GAMT Deficiency
HHH Syndrome
Holocarboxylase Synthetase Deficiency
Homocystinuria
Hurler Syndrome (MPS I)
MELAS
3-Methylglutaconic Aciduria Type I
l.o. Methylmalonic Acidemia
MHBD Deficiency
Molybdenum Cofactor Deficiency Type A
l.o. NAGS Deficiency
Niemann Pick Disease Type C
l.o. Non-Ketotic Hyperglycinemia
l.o. OTC Deficiency
PDH Complex Deficiency
Phenylketonuria
PHGDH Deficiency (Serine deficiency)
PSAT Deficiency (Serine deficiency)
l.o. Propionic Acidemia
PSPH Deficiency (Serine deficiency)
Pyridoxine Dependent Epilepsy
Pyrimidine 5-Nucleotidase Superactivity
Sanfilippo Syndrome A (MPS IIIa)
Sanfilippo Syndrome B (MPS IIIb)
Sanfilippo Syndrome C (MPS IIIc)
Sanfilippo Syndrome D (MPS IIId)
SCOT Deficiency
Sjögren Larsson Syndrome
Sly Syndrome (MPS VII)
Smith Lemli Opitz Syndrome
SPR deficiency (Biopterin deficiency)
SSADH Deficiency
Thiamine Responsive Encephalopathy
Tyrosine Hydroxylase Deficiency
Tyrosinemia Type II
Wilson Disease
Co Enzyme Q10 Deficiency
Cobalamin A Deficiency
Cobalamin B Deficiency
Cobalamin C Deficiency
Cobalamin D Deficiency
Cobalamin E Deficiency
Cobalamin F Deficiency
DHPR Deficiency (Biopterin Deficiency)
Gaucher Disease Type III
GLUT1 Deficiency Syndrome
l.o. Glutaric Acidemia I
Glutaric Acidemia II
GTPCH1 Deficiency (Biopterin Deficiency)
HMG-CoA Lyase Deficiency
Hunter Syndrome (MPS II)
Hyperinsulinism Hyperammonemia Syndrome
Imerslund Gräsbeck Syndrome
l.o. Isovaleric Acidemia
Maple Syrup Urine Disease (Variant)
Menkes Disease Occipital Horn Syndrome
l.o. Metachromatic Leukodystrophy
3-Methylcrotonylglycinuria
mHMG-CoA Synthase Deficiency
l.o. MTHFR Deficiency
PCBD Deficiency (Biopterin Deficiency)
PTS Deficiency (Biopterin Deficiency)
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