Specific

25-hydroxyvitamin D3 deficiency (pseudovitamin D3 deficiency rickets) acatalasemia (acatalasia) adiponectin deficiency aminoacylase-1 deficiency AMP deaminase deficiency biotinidase deficiency (BTD deficiency); late-onset multiple carboxylase deficiency Brunner syndrome caspase-8 deficiency complement C1s deficiency congenital bile acid synthesis defect cortisone reductase deficiency cytochrome C oxidase deficiency; mitochondrial complex IV deficiency; COX deficiency D-bifunctional protein deficiency (DBPD) dihydropyrimidine dehydrogenase deficiency; hereditary thymine-uraciluria; familial pyrimidinemia dimethylglycine dehydrogenase deficiency (DMGDH deficiency, DMGDHD) disaccharidase deficiency dopamine-beta hydroxylase deficiency (DBH deficiency); norepinephrine deficiency enterokinase deficiency; enteropeptidase deficiency familial hypophosphatasia familial tumoral calcinosis Farber disease (Farber lipogranulomatosis) ficolin-3 deficiency GABA aminotransaminase deficiency (GABA-AT deficiency) globoid leukodystrophy; Krabbe's leukodystrophy; galactosylceramide beta-galactosidase deficiency; galactosylceramidase deficiency glucose-6-phosphate dehydrogenase [G6PD] deficiency; chronic non-spherocytic hemolytic anemia (CNSHA) glutamine deficiency glutathione reductase deficiency hydroxykynureninuria; xanthurenic aciduria; kynureninase deficiency inborn error of metabolism IRAK4 deficiency isovaleric acidemia; isovaleryl-CoA dehydrogenase deficiency L-arginine:glycine amidinotransferase deficiency (AGAT deficiency) Lesch-Nyhan syndrome; hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency lipoprotein lipase deficiency lysosomal beta-mannosidosis methylcobalamin deficiency methylenetetrahydrofolate reductase deficiency mitochondrial complex III deficiency monocarboxylate transporter 8 deficiency (MCT8 deficiency) myopathy with lactic acidosis & sideroblastic anemia; mitochondrial myopathy & sideroblastic anemia (MLASA) N-acetylglutamate synthase deficiency NADH dehydrogenase deficiency (complex 1 mitochondrial respiratory chain deficiency) nucleoside phosphorylase deficiency (NP deficiency) oculocutaneous albinism type 1 (tyrosinase negative oculocutaneous albinism) ornithine hyperammonemia; ornithine carbamoyltransferase deficiency Parkes-Weber syndrome phosphoenolpyruvate carboxykinase deficiency plasminogen deficiency prolidase deficiency propionic acidemia protein C deficiency pyrimidine 5' nucleotidase deficiency hemolytic anemia; P5N deficiency pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency) Quebec platelet disorder sucrase-isomaltase deficiency (disaccharide intolerance 1) thiopurine S-methyltransferase deficiency (TPMT deficiency) total iodide organification defect; genetic defect in thyroid hormonogenesis 2A; thyroid hormone organification defect 2 trifunctional protein deficiency (TFP deficiency) very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency)