Table 2.
Overview of 116 treatableIDs and diagnostic tests
| Group of disorder | Name of disorder | Gene(s) | Orphanet# | OMIM gene/locus# | HPO# | Diagnostic test |
|---|---|---|---|---|---|---|
| Congenital disorders of glycosylation | SLC35A2-CDG* | SLC35A2 (X-linked) | 356,961 | 314,375 | 7355 | Serum transferrin/N-glycan profiling |
| Congenital disorders of glycosylation | SLC35C1-CDG* | SLC35C1-CDG (AR) | 99,843 | 605,881 | 55,343 | Serum transferrin/N-glycan profiling |
| Congenital disorders of glycosylation | PMM2-CDG* | PMM2 (AR) | 79,318 | 601,785 | 5373 | Serum transferrin/N-glycan profiling |
| Congenital disorders of glycosylation | PIGA-CDG* | PIGA (X-linked) | – | 311,770 | – | Molecular testing |
| Congenital disorders of glycosylation | PIGM-CDG* | PIGM (AR) | 83,639 | 610,273 | 93,183 | Molecular testing |
| Congenital disorders of glycosylation | PIGO-CDG* | PIGO (AR) | 247,262 | 614,730 | 84,720 | Molecular testing |
| Disorders of amino acid metabolism | Arginase deficiency (synonym: argininemia) | ARG1 (AR) | 90 | 608,313 | 383 |
Plasma amino acids Plasma ammonia |
| Disorders of amino acid metabolism | Argininosuccinate lyase deficiency | ASL (AR) | 23 | 608,310 | 435 |
Plasma amino acids Plasma ammonia |
| Disorders of amino acid metabolism | Argininosuccinate synthetase deficiency (synonym: citrullinemia type 1) | ASS1 (AR) | 247,525 | 603,470 | 445 |
Plasma amino acids Plasma ammonia |
| Disorders of amino acid metabolism | Citrin deficiency | SLC25A13 (AR) | 247,582 | 603,859 | 10,165 | Plasma amino acids |
| Disorders of amino acid metabolism | Methionine synthase deficiency (synonym: homocystinuria-megaloblastic anemia, cblG type) | MTR (AR) | 2170 | 156,570 | 4548 | Plasma total homocysteine |
| Disorders of amino acid metabolism | Carbamoyl phosphate synthetase 1 deficiency | CPS1 (AR) | 147 | 608,307 | 1373 | Plasma amino acids |
| Disorders of amino acid metabolism | Mitochondrial sulfur dioxygenase deficiency (synonym: ethylmalonic encephalopathy) | ETHE1 (AR) | 51,188 | 608,451 | 23,474 |
Urine organic acids Plasma acylcarnitines Molecular testing |
| Disorders of amino acid metabolism | Glutaryl-CoA dehydrogenase deficiency (synonym: glutaric aciduria type 1) | GCDH (AR) | 25 | 608,801 | 2639 |
Plasma acylcarnitines Urine organic acids |
| Disorders of amino acid metabolism | Mitochondrial ornithine transporter deficiency (synonym: hyperornithinemia-hyperammonemia-homocitrullinuria syndrome) | SLC25A15 (AR) | 415 | 603,861 | 10,116 |
Plasma amino acids Plasma ammonia |
| Disorders of amino acid metabolism | Cystathionine beta-synthase deficiency (synonym: classic homocystinuria) | CBS (AR) | 394 | 613,381 | 875 |
Urine organic acids Plasma total homocysteine |
| Disorders of amino acid metabolism | Isovaleryl-CoA dehydrogenase deficiency (synonym: isovaleric acidemia) | IVD (AR) | 33 | 607,036 | 3712 |
Plasma acylcarnitines Urine organic acids |
| Disorders of amino acid metabolism | N-acetylglutamate synthase deficiency | NAGS (AR) | 927 | 608,300 | 162,417 |
Plasma amino acids Plasma ammonia |
| Disorders of amino acid metabolism | Glycine encephalopathy due to aminomethyltransferase (AMT) or glycine decarboxylase (GLDC) deficiency (synonym: nonketotic hyperglycinemia) | AMT/GLDC (AR) | 407 | 238,310 (AMT), 238,300 (GLDC) | 275 (AMT), 2731 (GLDC) |
Plasma amino acids CSF amino acids |
| Disorders of amino acid metabolism | Branched-chain ketoacid dehydrogenase E1 alpha (BCKDHA)/beta (BCKDHB)/E2 (DBT) deficiency (synonym: maple syrup urine disease type 1a (BCKDHA)/2 (DBT); Dihydrolipoyl transacylase deficiency (DBT)) | BCKDHA/BCKDHB/ DBT (AR) | 268,145, 268,162, 268,184 | 608,348 (BCKDHA), 248,611 (BCKDHB), 248,610 (DBT) | 593 (BCKDHA), 594 (BCKDHB), 1629 (DBT) | Plasma amino acids |
| Disorders of amino acid metabolism | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | MMUT (AR) | 289,916, 79,312 | 609,058 | 4594 |
Plasma acylcarnitines Urine organic acids Blood lactate Plasma ammonia |
| Disorders of amino acid metabolism | Ornithine transcarbamylase deficiency | OTC (X-linked) | 664 | 300,461 | 5009 |
Plasma amino acids Urine organic acids |
| Disorders of amino acid metabolism | Phenylalanine hydroxylase deficiency (synonym: phenylketonuria) | PAH (AR) | 79,254 | 612,349 | 5053 | Plasma amino acids |
| Disorders of amino acid metabolism | 3-phosphoglycerate dehydrogenase deficiency | PHGDH (AR) | 79,351 | 606,879 | 26,227 |
Plasma amino acids CSF amino acids |
| Disorders of amino acid metabolism | Phosphoserine aminotransferase deficiency | PSAT1 (AR) | 284,417 | 610,936 | 29,968 |
Plasma amino acids CSF amino acids |
| Disorders of amino acid metabolism | Propionic acidemia due to propionyl-CoA carboxylase subunit alpha (PCCA)/beta (PCCB) deficiency | PCCA/PCCB (AR) | 35 | 232,000 (PCCA), 232,050 (PCCB) | 5095 (PCAA), 5096 (PCCB) |
Plasma acylcarnitines Urine organic acids Blood lactate Plasma ammonia |
| Disorders of amino acid metabolism | Phosphoserine phosphatase deficiency | PSPH (AR) | 79,350 | 172,480 | 5723 |
Plasma amino acids CSF amino acids |
| Disorders of amino acid metabolism | Tyrosine aminotransferase deficiency (synonyms: tyrosinemia type 2; Richner-Hanhart syndrome) | TAT (AR) | 28,378 | 613,018 | 6898 |
Plasma amino acids Urine organic acids |
| Disorders of amino acid metabolism | Branched-chain ketoacid dehydrogenase kinase deficiency* | BCKDK (AR) | 308,410 | 614,901 | 10,295 | Plasma amino acids |
| Disorders of amino acid metabolism | Carbonic anhydrase VA deficiency | CA5A (AR) | 401,948 | 114,761 | 763 |
Plasma amino acids Plasma ammonia blood lactate molecular testing |
| Disorders of amino acid metabolism | 3-hydroxyisobutyryl-CoA hydrolase deficiency (synonym: beta-hydroxyisobutyryl-CoA deacylase deficiency)* | HIBCH (AR) | 88,639 | 250,620 | 26,275 |
Urine organic acids Molecular testing |
| Disorders of amino acid metabolism | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency* | ECHS1 (AR) | 255,241 | 616,277 | 1892 |
Urine organic acids Molecular testing |
| Disorders of amino acid metabolism | S-adenosylhomocysteine hydrolase deficiency* | AHCY (AR) | 88,618 | 613,752 | 191 |
Plasma amino acids Plasma total homocysteine |
| Disorders of amino acid metabolism | Glutamine synthetase deficiency* | GLUL (AR) | 71,278 | 610,015 | 2752 |
Plasma amino acids CSF amino acids |
| Disorders of carbohydrate metabolism | GLUT1 deficiency | SLC2A1 (AD) | 71,277 | 138,140 | 6513 | CSF other (CSF:blood glucose ratio) |
| Disorders of complex molecule degradation | Alpha-mannosidase deficiency | MAN2B1 (AR) | 309,282, 309,288 | 609,458 | 4125 | Urine oligosaccharides** |
| Disorders of complex molecule degradation | Aspartylglucosaminidase deficiency | AGA (AR) | 93 | 613,228 | 175 | Urine oligosaccharides** |
| Disorders of complex molecule degradation | Iduronate sulfatase deficiency (synonym: Hunter syndrome) | IDS (X-linked) | 217,085 | 300,823 | 3423 | Urine glycosaminoglycans** |
| Disorders of complex molecule degradation | Alpha-iduronidase deficiency (synonyms: Hurler syndrome [severe]; Scheie syndrome [attenuated]) | IDUA (AR) | 93,473 | 252,800 | 3425 | Urine glycosaminoglycans** |
| Disorders of complex molecule degradation | Arylsulfatase A deficiency | ARSA (AR) | 309,256, 309,263, 309,271 | 607,574 | 410 | Enzymatic testing (Arylsulfatase A) |
| Disorders of complex molecule degradation | Niemann-Pick disease type C1 (NPC1)/C2 (NPC2) | NPC1/NPC2 (AR) | 646 | 607,623 (NPC1), 601,015 (NPC2) | 4864 (NPC1), 10,577 (NPC2) | Plasma (oxy-)sterols |
| Disorders of complex molecule degradation | Beta-glucuronidase deficiency (synonym: Sly syndrome) | GUSB (AR) | 584 | 611,499 | 2990 | Urine glycosaminoglycans** |
| Disorders of complex molecule degradation | Tripeptidyl-peptidase 1 deficiency (synonym: CLN2 disease)* | TPP1 (AR) | 228,349 | 607,998 | 1200 | Enzymatic testing (Tripeptidyl-peptidase 1) |
| Disorders of complex molecule degradation | Alpha-fucosidase deficiency* | FUCA1 (AR) | 349 | 230,000 | 2517 | Urine glycosaminoglycans** |
| Disorders of complex molecule degradation | CLN7 disease* | MFSD8 (AR) | 228,366 | 611,124 | 256,471 | Molecular testing |
| Disorders of energy substrate metabolism | Arginine:glycine amidinotransferase (AGAT) deficiency | GATM (AR) | 35,704 | 602,360 | 2628 | (Plasma/) urine creatine & guanidinoacetate |
| Disorders of energy substrate metabolism | Creatine transporter deficiency | SLC6A8 (X-linked) | 52,503 | 300,036 | 6535 | Urine creatine & guanidinoacetate |
| Disorders of energy substrate metabolism | Guanidinoacetate methyltransferase deficiency | GAMT (AR) | 382 | 601,240 | 2593 | Urine creatine & guanidinoacetate |
| Disorders of energy substrate metabolism | Pyruvate dehydrogenase E1 alpha (PDHA1)/beta (PDHB)/E2 (DLAT)/E3 (DLD)/E3BP (PDHX) deficiency | PDHA1 (X-linked)/PDHB/DLAT/DLD/PDHX (AR) | 79,243 (PDHA1), 255,138 (PDHB), 79,244 (DLAT), 2394 (DLD), 255,182 (PDHX) | 300,502 (PDHA1), 179,060 (PDHB), 608,770 (DLAT), 238,331 (DLD), 608,769 (PDHX) | 5160 (PDHA1), 5162 (PDHB), 1737 (DLAT), 1738 (DLD), 8050 (PDHX) |
CSF other (lactate:pyruvate ratio) other (blood lactate:pyruvate ratio) |
| Disorders of energy substrate metabolism | Pyruvate dehydrogenase phosphatase deficiency* | PDP1 (AR) | 79,246 | 605,993 | 54,704 |
Plasma amino acids Urine organic acids |
| Disorders of fatty acid, carnitine, and ketone body metabolism | Mitochondrial acetoacetyl-CoA thiolase deficiency | ACAT1 (AR) | 134 | 607,809 | 38 | Urine organic acids |
| Disorders of fatty acid, carnitine, and ketone body metabolism | Electron transfer flavoprotein subunit alpha (ETFA)/subunit beta (ETFB)/dehydrogenase deficiency (ETFDH) (synonym: glutaric acidemia type 2A/2B/2C; multiple acyl-CoA dehydrogenase deficiency type 2A/2B/2C) | ETFA/ETFB/ETFDH (AR) | 26,791 | 608,053 (ETFA), 130,410 (ETFB), 231,675 (ETFDH) | 2108 (ETFA), 2109 (ETFB), 2110 (ETFDH) |
Plasma acylcarnitines Urine organic acids |
| Disorders of fatty acid, carnitine, and ketone body metabolism | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | HMGCL (AR) | 20 | 613,898 | 3115 | Urine organic acids |
| Disorders of fatty acid, carnitine, and ketone body metabolism | Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | HMGCS2 (AR) | 35,701 | 600,234 | 3158 | Urine organic acids |
| Disorders of fatty acid, carnitine, and ketone body metabolism | Epsilon-N-trimethyllysine hydroxylase deficiency* | TMLHE (X-linked) | 300,777 | 55,217 | Plasma acylcarnitines | |
| Disorders of lipid metabolism | X-linked adrenoleukodystrophy | ABCD1 (X-linked) | 139,396, 139,396 | 300,371 | 215 | Plasma very long chain fatty acids |
| Disorders of lipid metabolism | Sterol 27-hydroxylase deficiency (synonym: cerebrotendinous xanthomatosis) | CYP27A1 (AR) | 909 | 606,530 | 1593 | Other (plasma cholestanol) |
| Disorders of lipid metabolism | 7-dehydrocholesterol reductase deficiency | DHCR7 (AR) | 818 | 602,858 | 1717 | Plasma (oxy-)sterols |
| Disorders of mitochondrial cofactor biosynthesis | Coenzyme Q5 methyltransferase deficiency | COQ5 (AR) | 616,359 | 84,274 | Molecular testing*** | |
| Disorders of mitochondrial cofactor biosynthesis | Coenzyme Q8A (ADCK3) deficiency | COQ8A (AR) | 139,485 | 606,980 | 56,997 | Molecular testing |
| Disorders of nucleobase, nucleotide and nucleic acid metabolism | Isoleucyl-tRNA synthetase 1 deficiency* | IARS1 (AR) | 541,423 | 600,709 | 3376 | Molecular testing |
| Disorders of nucleobase, nucleotide and nucleic acid metabolism | Leucyl-tRNA synthetase 1 deficiency* | LARS1 (AR) | 370,088 | 151,350 | 51,520 | Molecular testing |
| Disorders of nucleobase, nucleotide and nucleic acid metabolism | Phenylalanyl-tRNA synthetase subunit beta deficiency* | FARSB (AR) | 178,506 | 609,690 | 10,056 | Molecular testing |
| Disorders of nucleobase, nucleotide and nucleic acid metabolism | Seryl-tRNA synthetase 1 deficiency* | SARS1 (AR) | 88,616 | 607,529 | 6301 | Molecular testing |
| Disorders of nucleobase, nucleotide and nucleic acid metabolism | Methionyl-tRNA synthetase 1 deficiency* | MARS1 (AR) | 397,735, 401,835, 440,427 | 156,560 | 4141 | Molecular testing |
| Disorders of nucleobase, nucleotide and nucleic acid metabolism | Phosphoribosylpyrophosphate synthetase deficiency* | PRPS1 (X-linked) | 1187 | 311,850 | 5631 | Urine purines & pyrimidines |
| Disorders of nucleobase, nucleotide and nucleic acid metabolism | CAD trifunctional protein deficiency* | CAD (AR) | 448,010 | 114,010 | 790 | Molecular testing |
| Disorders of peptide and amine metabolism | NRF2 superactivity (synonym: immunodeficiency, developmental delay, and hypohomocysteinemia)* | NFE2L2 (AD) | 600,492 | 4780 | Plasma total homocysteine | |
| Disorders of trace elements and metals | Hereditary ceruloplasmin deficiency | CP (AR) | 48,818 | 117,700 | 1356 | Copper & ceruloplasmin |
| Disorders of trace elements and metals | Copper-transporting ATPase subunit alpha deficiency (synonyms: Menkes disease [severe]; occipital horn syndrome [milder]) | ATP7A (AR) | 565 | 300,011 | 538 | copper & Ceruloplasmin |
| Disorders of trace elements and metals | Copper-transporting ATPase subunit beta deficiency (synonym: Wilson disease) | ATP7B (AR) | 905 | 606,882 | 540 | Copper & ceruloplasmin |
| Disorders of trace elements and metals | SLC39A8 deficiency* | SLC39A8 (AR) | 468,699 | 608,732 | 64,116 | Other (serum zinc, sialotransferrins, manganese, CSF lactate) |
| Disorders of trace elements and metals | MEDNIK syndrome | AP1S1 (AR) | 171,851 | 609,313 | 1174 |
Copper & ceruloplasmin Molecular testing |
| Disorders of vitamin and cofactor metabolism | Thiamine transporter 2 deficiency (synonym: biotin-thiamine-responsive basal ganglia disease) | SLC19A3 (AR) | 65,284, 199,348 | 606,152 | 80,704 | Molecular testing |
| Disorders of vitamin and cofactor metabolism | Biotinidase deficiency | BTD (AR) | 79,241 | 609,019 | 686 | Enzymatic testing (Biotinidase) |
| Disorders of vitamin and cofactor metabolism | Folate receptor alpha deficiency (synonym: neurodegeneration due to cerebral folate transport deficiency) | FOLR1 (AR) | 217,382 | 136,430 | 2348 | CSF other (methyltetrahydrofolate) |
| Disorders of vitamin and cofactor metabolism | Methylmalonic aciduria, cblA type | MMAA (AR) | 79,310 | 607,481 | 166,785 | Urine organic acids |
| Disorders of vitamin and cofactor metabolism | Methylmalonic aciduria, cblB type | MMAB (AR) | 79,311 | 607,568 | 326,625 | Urine organic acids |
| Disorders of vitamin and cofactor metabolism | Methylmalonic aciduria and homocystinuria, cblC type | MMACHC (AR) | 79,282 | 609,831 | 25,974 |
Urine organic acids Plasma total homocysteine |
| Disorders of vitamin and cofactor metabolism | Methylmalonic aciduria and homocystinuria, cblD type | MMADHC (AR) | 79,283 | 611,935 | 27,249 |
urine organic acids Plasma total homocysteine |
| Disorders of vitamin and cofactor metabolism | Homocystinuria, cblDv1 type | MMADHC (AR) | 308,380 | 611,935 | 27,249 | Plasma total homocysteine |
| Disorders of vitamin and cofactor metabolism | Methylmalonic aciduria, cblDv2 type | MMADHC (AR) | 308,442 | 611,935 | 27,249 | Urine organic acids |
| Disorders of vitamin and cofactor metabolism | Methionine synthase reductase deficiency (synonym: homocystinuria-megaloblastic anemia, cblE type) | MTRR (AR) | 2169 | 603,568 | 4552 | Plasma total homocysteine |
| Disorders of vitamin and cofactor metabolism | Methylmalonic aciduria and homocystinuria, cblF type | LMBRD1 (AR) | 79,284 | 612,625 | 55,788 |
Urine organic acids Plasma total homocysteine |
| Disorders of vitamin and cofactor metabolism | Methylmalonic aciduria and homocystinuria, cblJ type* | ABCD4 (AR) | 369,955 | 603,214 | 5826 |
Urine organic acids Plasma total homocysteine |
| Disorders of vitamin and cofactor metabolism | Dihydropteridine reductase deficiency | QDPR (AR) | 226 | 612,676 | 5860 |
CSF neurotransmitters Other (biopterin loading test) |
| Disorders of vitamin and cofactor metabolism | Autosomal recessive GTP cyclohydrolase 1 deficiency | GCH1 (AR) | 2102 | 600,225 | 2643 | CSF neurotransmitters |
| Disorders of vitamin and cofactor metabolism | Holocarboxylase synthetase deficiency | HLCS (AR) | 79,242 | 609,018 | 3141 | Urine organic acids |
| Disorders of vitamin and cofactor metabolism | Cyclic pyranopterin monophosphate synthase deficiency (synonym: molybdenum cofactor deficiency type A) | MOCS1 (AR) | 308,386 | 603,707 | 4337 |
Urine purines & pyrimidines Urine sulfites/S-sulfocysteine, (serum uric acid) |
| Disorders of vitamin and cofactor metabolism | 5,10-methylenetetrahydrofolate reductase deficiency | MTHFR (AR) | 395 | 607,093 | 4524 |
Plasma amino acids Plasma total homocysteine |
| Disorders of vitamin and cofactor metabolism | 6-pyruvoyl-tetrahydropterin synthase deficiency | PTS (AR) | 13 | 612,719 | 5805 |
CSF neurotransmitters Other (biopterin loading test) |
| Disorders of vitamin and cofactor metabolism | Alpha-aminoadipic semialdehyde dehydrogenase deficiency (synonym: pyridoxine-dependent epilepsy) | ALDH7A1 (AR) | 3006 | 107,323 | 501 | Other (plasma P6C, urine alpha-aminoadipic semialdehyde) |
| Disorders of vitamin and cofactor metabolism | Sepiapterin reductase deficiency | SPR (AR) | 70,594 | 182,125 | 6697 |
CSF neurotransmitters Other (biopterin loading test) |
| Disorders of vitamin and cofactor metabolism | 5,10-methenyltetrahydrofolate synthetase deficiency (synonym: 5-formyltetrahydrofolate cycloligase deficiency)* | MTHFS (AR) | - | 604,197 | 10,588 |
CSF neurotransmitters CSF other (tetrahydrofolate & neopterin) |
| Disorders of vitamin and cofactor metabolism | Dihydrofolate reductase deficiency | DHFR (AR) | 319,651 | 126,060 | 1719 |
CSF neurotransmitters CSF other (tetrahydrofolate) |
| Disorders of vitamin and cofactor metabolism | Sodium-dependent multivitamin transporter deficiency* | SLC5A6 (AR) | – | 604,024 | 8884 | molecular testing |
| Disorders of vitamin and cofactor metabolism | Pyridoxamine 5′-phosphate oxidase deficiency* | PNPO (AR) | 79,096 | 603,287 | 55,163 |
CSF amino acids CSF other (vitamins) Molecular testing |
| Disorders of vitamin and cofactor metabolism | Thiamine pyrophosphokinase deficiency* | TPK1 (AR) | 293,955 | 614,458 | 27,010 |
CSF neurotransmitters Urine organic acids Blood lactate |
| Disorders of vitamin and cofactor metabolism | NAD(P)HX epimerase deficiency* | NAXE (AR) | 555,407 | 608,862 | 128,240 |
Molecular testing Blood lactate |
| Disorders of vitamin and cofactor metabolism | Mitochondrial thiamine pyrophosphate transporter deficiency* | SLC25A19 (AR) | 217,396 | 606,521 | 60,386 | Molecular testing |
| Disorders of vitamin and cofactor metabolism | Transcobalamin II deficiency* | TCN2 (AR) | 859 | 275,350 | 6948 |
Urine organic acids Plasma total homocysteine |
| Disorders of vitamin and cofactor metabolism | Proton-coupled folate transporter deficiency (synonym: hereditary folate malabsorption)* | SLC46A1 (AR) | 90,045 | 229,050 | 113,235 |
Serum/RBC folate CSF other (folate) CSF neurotransmitters |
| Endocrine metabolic disorders | ATP-sensitive potassium channel regulatory/pore-forming subunit superactivity* | ABCC8 (AD/AR)/KCNJ11 (AD) | 79,134 | 600,509 | 6833 | Molecular testing |
| mtDNA-related disorders | Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MTTL1/MTTQ/MTTH/MTTK/MTTC/MTTS1/MTND1/MTND5/MTND6/MTTS2) | MT-ND1/MT-ND4/MT-ND5/MT-ND6/MT-CO1/MT-CPO2/MT-CO3/ MT-TQ/MT-TH/MT-TL1/MT-TF/MT-TS1/MT-TS2/MT-TW (Mt) | 550 | 516,000 (MT-ND1), 516,003 (MT-ND4), 516,005 (MT-ND5), 516,006 (MT-ND6), 516,030 (MT-CO1), 516,040 (MT-CO2), 516,050 (MT-CO3), 590,030 (MT-TQ), 590,040 (MT-TH), 590,050 (MT-TL1), 590,070 (MT-TF), 590,080 (MT-TS1), 590,085 (MT-TS2), 590,095 (MT-TW) | 4535 (MT-ND1), 4536 (MT-ND4), 4540 (MT-ND5), 4541 (MT-ND6), 4512 (MT-CO1), 4513 (MT-CO2), 4514 (MT-CO3), 4572 (MT-TQ), 4574 (MT-TS1), 4578 (MT-TW) | Molecular testing blood lactate |
| Neurotransmitter disorders | Succinic semialdehyde dehydrogenase deficiency | ALDH5A1 (AR) | 22 | 610,045 | 7915 | Urine organic acids |
| Neurotransmitter disorders | Tyrosine hydroxylase deficiency | TH (AR) | 101,150 | 191,290 | 7054 | CSF neurotransmitters |
| Neurotransmitter disorders | Vesicular monoamine transporter 2 deficiency | SLC18A2 (AR) | 352,649 | 193,001 | 6571 | CSF neurotransmitters |
| Neurotransmitter disorders | Aromatic L-amino acid decarboxylase deficiency* | DDC (AR) | 35,708 | 107,930 | 1644 | CSF neurotransmitters |
| Neurotransmitter disorders | Ionotropic glutamate receptor NMDA type subunit 1 dysregulation* | GRIN1 (AD) | - | 138,249 | 2902 | Molecular testing |
| Neurotransmitter disorders | Ionotropic glutamate receptor NMDA type subunit 2A dysregulation* | GRIN2A (AD) | 289,266 | 138,253 | 2903 | Molecular testing |
| Neurotransmitter disorders | Ionotropic glutamate receptor NMDA type subunit 2B dysregulation* | GRIN2B (AD) | - | 138,252 | 2904 | Molecular testing |
| Neurotransmitter disorders | Ionotropic glutamate receptor NMDA type subunit 2D superactivity* | GRIN2D (AD) | 442,835 | 602,717 | 2906 | Molecular testing |
| Neurotransmitter disorders | DNAJC12 deficiency* | DNAJC12 (AR) | 508,523 | 617,384 | 56,521 |
Plasma amino acids CSF neurotransmitters |
| Nuclear-encoded disorders of oxidative phosphorylation | ACAD9 deficiency* | ACAD9 (AR) | 99,901 | 611,126 | 28,976 | other (muscle OXPHOS) |
| Other disorders of mitochondrial function | Mitochondrial aspartate-glutamate carrier isoform 1 deficiency (synonym: aralar deficiency)* | SLC25A12 (AR) | 353,217 | 612,949 | 8604 | Molecular testing |
| Other disorders of mitochondrial function | Mitochondrial aspartate aminotransferase deficiency* | GOT2 (AR) | - | 138,150 | 2806 |
Plasma amino acids Plasma ammonia Blood lactate |
Names and groups of disorders were based on the most recent International Conference on Inherited Metabolic Disorders (ICIMD) classification. OMIM = Online Mendelian Inheritance in Man®. HPO = Human Phenotype Ontology. Mode of inheritance for each gene is denoted as AD = autosomal dominant; AR = autosomal recessive; X-linked (dominant); Mt = mitochondrial. CSF = cerebrospinal fluid. * = new treatable ID (not included in previous database/review). ** = also identified by targeted enzyme testing. *** = consider white blood cells or muscle tissue CoQ10 analysis