Disease The intractable diseases designated by MHLW, Japan

Diseases : 348 - Clinical trials : 43,690 / Drugs : 27,527 - ( DrugBank : 2,441 ) / Drug target genes : 714 - Drug target pathways : 315

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients, FY2024 (corrected)
19	Lysosomal storage disease [Met] 💬 "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease type A/B", "Niemann-Pick type A", "NPD-A", "NPA", "Niemann-Pick type B", "NPD-B", "NPB", "Acid sphingomyelinase deficiency", "ASMD", "Niemann-Pick disease type C", "Niemann-Pick type C", "NPD-C", "NPC", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Krabbe syndrome", "Metachromatic leukodystrophy", "MLD", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Hurler-Scheie syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux-Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I-cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha-Mannosidosis", "Alpha-Mannosidase Deficiency", "Beta-Mannosidosis", "Beta-Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Schindler syndrome", "Kanzaki disease", "Kanzaki syndrome", "Pompe disease", "Pompe syndrome", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Danon syndrome", "Free sialic acid storage disease", "Infantile sialic acid storage disease", "ISSD", "Salla disease", "Salla syndrome", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis" 19. Lysosomal storage disease × [Met] Metabolic diseases	1,038 trials    | 231 / 391 / 348 / 62 💬 19. Lysosomal storage disease × Some trials have no Phase data.	873 drugs   [ 121 drugs ]	63 genes   195 pathways	1,837 patients Age distribution💬 19. Lysosomal storage disease × Age Num 0-9 2 10-19 14 20-29 296 30-39 305 40-49 353 50-59 367 60-69 278 70-74 104 75- 118
20	Adrenoleukodystrophy [Met] 💬 "ALD", "Childhood cerebral ALD", "CCALD", "Adolescent cerebral ALD", "AdoCALD", "AdolCALD", "Adrenomyeloneuropathy", "AMN", "Adult cerebral ALD", "ACALD" 20. Adrenoleukodystrophy × [Met] Metabolic diseases	71 trials    | 10 / 30 / 29 / 1 💬 20. Adrenoleukodystrophy × Some trials have no Phase data.	100 drugs   [ 29 drugs ]	22 genes   125 pathways	260 patients Age distribution💬 20. Adrenoleukodystrophy × Age Num 0-9 - 10-19 2 20-29 69 30-39 55 40-49 46 50-59 34 60-69 31 70-74 12 75- 11
21	Mitochondrial disease [Met] 💬 "Choronic progressive external ophthalmolegia", "CPEO", "Leigh syndrome", "Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode", "MELAS", "Myoclonus epilepsy associated with ragged-red fibers", "MERRF", "Mitochondrial respiratory chain disorders", "Pearson syndrome" 21. Mitochondrial disease × [Met] Metabolic diseases	108 trials    | 13 / 50 / 33 / 2 💬 21. Mitochondrial disease × Some trials have no Phase data.	107 drugs   [ 35 drugs ]	48 genes   110 pathways	1,672 patients Age distribution💬 21. Mitochondrial disease × Age Num 0-9 2 10-19 15 20-29 242 30-39 242 40-49 365 50-59 374 60-69 255 70-74 71 75- 106
28	Systemic amyloidosis [Met] 💬 "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Immunoglobulin-related amyloidosis", "Amyloid heavy-chain amyloidosis", "Amyloid heavy-chain amyloidosis", "AH amyloidosis", "Systemic wild-type transthyretin amyloidosis", "Senile systemic amyloidosis", "SSA", "Transthyretin amyloid cardiomyopathy", "ATTR-CM", "Hereditary transthyretin amyloidosis", "Familial amyloidosis", "Familial amyloid polyneuropathy", "FAP", "Transthyretin amyloid cardiomyopathy", "ATTR-CM", "Hereditary systemic amyloidosis" 28. Systemic amyloidosis × [Met] Metabolic diseases	454 trials    | 56 / 155 / 203 / 11 💬 28. Systemic amyloidosis × Some trials have no Phase data.	430 drugs   [ 90 drugs ]	66 genes   183 pathways	8,169 patients Age distribution💬 28. Systemic amyloidosis × Age Num 0-9 - 10-19 - 20-29 5 30-39 31 40-49 124 50-59 445 60-69 1,039 70-74 1,159 75- 5,366
79	Homozygous familial hypercholesterolemia [Met] 💬 "Familial hypercholesterolemia", "Familial hypercholesterolaemia" 79. Homozygous familial hypercholesterolemia × [Met] Metabolic diseases	525 trials    | 18 / 85 / 285 / 19 💬 79. Homozygous familial hypercholesterolemia × Some trials have no Phase data.	330 drugs   [ 49 drugs ]	20 genes   59 pathways	488 patients Age distribution💬 79. Homozygous familial hypercholesterolemia × Age Num 0-9 - 10-19 - 20-29 30 30-39 46 40-49 95 50-59 110 60-69 95 70-74 54 75- 58
169	Menkes disease [Met] 💬 "Menkes syndrome" 169. Menkes disease × [Met] Metabolic diseases	9 trials    | 3 / 3 / 1 / 0 💬 169. Menkes disease × Some trials have no Phase data.	8 drugs   [ 3 drugs ]	9 genes   16 pathways	2 patients Age distribution💬 169. Menkes disease × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
171	Wilson disease [Met] 💬 "WD" 171. Wilson disease × [Met] Metabolic diseases	93 trials    | 15 / 25 / 31 / 9 💬 171. Wilson disease × Some trials have no Phase data.	104 drugs   [ 18 drugs ]	7 genes   33 pathways	789 patients Age distribution💬 171. Wilson disease × Age Num 0-9 - 10-19 5 20-29 202 30-39 172 40-49 178 50-59 155 60-69 61 70-74 12 75- 4
234	Peroxisomal disease (except Adrenoleukodystrophy) [Met] 💬 "Peroxisomal disease", "Peroxisomal syndrome", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS", "Peroxisome biogenesis disorder", "PBD", "PEX gene disorder", "Zellweger syndrome", "Neonatal adrenoleukodystrophy", "Infantile Refsum disease", "Rhizomelic chondrodysplasia punctata type 1", "RCDP type 1", "RCDP1", "Peroxisomal beta-oxidation enzyme deficiency", "Acyl-CoA oxidase deficiency", "AOX deficiency", "D-Bifunctional protein deficiency", "DBP deficiency", "Sterol carrier protein X deficiency", "SCPx deficiency", "2-methylacyl-CoA racemase deficiency", "Alpha-methylacyl-CoA racemase deficiency", "AMACR deficiency", "Plasmalogen biosynthesis enzyme deficiency", "Rhizomelic chondrodysplasia punctata type 2", "RCDP type 2", "RCDP2", "Rhizomelic chondrodysplasia punctata type 3", "RCDP type 3", "RCDP3", "Refsum disease", "Refsum syndrome", "Primary hyperoxaluria type 1", "PH1", "Primary hyperoxaluria", "Acatalasemia", "Acatalasia", "Takahara disease", "Takahara syndrome" 234. Peroxisomal disease (except Adrenoleukodystrophy) × [Met] Metabolic diseases	118 trials    | 20 / 43 / 44 / 0 💬 234. Peroxisomal disease (except Adrenoleukodystrophy) × Some trials have no Phase data.	85 drugs   [ 18 drugs ]	15 genes   50 pathways	3 patients Age distribution💬 234. Peroxisomal disease (except Adrenoleukodystrophy) × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 1 50-59 - 60-69 - 70-74 - 75- -
240	Phenylketonuria [Met] 💬 "PKU", "Hyperphenylalaninemia", "HPA", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia" 240. Phenylketonuria × [Met] Metabolic diseases	182 trials    | 20 / 27 / 51 / 18 💬 240. Phenylketonuria × Some trials have no Phase data.	144 drugs   [ 12 drugs ]	3 genes   5 pathways	314 patients Age distribution💬 240. Phenylketonuria × Age Num 0-9 - 10-19 3 20-29 130 30-39 92 40-49 56 50-59 26 60-69 6 70-74 1 75- -
241	Hypertyrosinemia type I [Met] 💬 "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I", "Fumarylacetoacetate hydrolase deficiency", "FAH deficiency" 241. Hypertyrosinemia type I × [Met] Metabolic diseases	15 trials    | 4 / 1 / 1 / 1 💬 241. Hypertyrosinemia type I × Some trials have no Phase data.	7 drugs   [ 1 drug ]	1 gene   3 pathways	3 patients Age distribution💬 241. Hypertyrosinemia type I × Age Num 0-9 - 10-19 - 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
242	Hypertyrosinemia type II [Met] 💬 "Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II" 242. Hypertyrosinemia type II × [Met] Metabolic diseases	-	-	-	1 patient Age distribution💬 242. Hypertyrosinemia type II × Age Num 0-9 - 10-19 - 20-29 1 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
243	Hypertyrosinemia type III [Met] 💬 "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III" 243. Hypertyrosinemia type III × [Met] Metabolic diseases	-	-	-	1 patient Age distribution💬 243. Hypertyrosinemia type III × Age Num 0-9 - 10-19 - 20-29 1 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
244	Maple syrup urine disease [Met] 💬 "MSUD" 244. Maple syrup urine disease × [Met] Metabolic diseases	5 trials    | 0 / 1 / 1 / 0 💬 244. Maple syrup urine disease × Some trials have no Phase data.	12 drugs   [ 2 drugs ]	-	18 patients Age distribution💬 244. Maple syrup urine disease × Age Num 0-9 - 10-19 - 20-29 6 30-39 7 40-49 5 50-59 - 60-69 - 70-74 - 75- -
245	Propionic acidemia [Met] 💬 245. Propionic acidemia × [Met] Metabolic diseases	17 trials    | 7 / 9 / 1 / 0 💬 245. Propionic acidemia × Some trials have no Phase data.	20 drugs   [ 4 drugs ]	1 gene   3 pathways	20 patients Age distribution💬 245. Propionic acidemia × Age Num 0-9 - 10-19 - 20-29 15 30-39 3 40-49 2 50-59 - 60-69 - 70-74 - 75- -
246	Methylmalonic acidemia [Met] 💬 "MMA" 246. Methylmalonic acidemia × [Met] Metabolic diseases	29 trials    | 10 / 14 / 1 / 1 💬 246. Methylmalonic acidemia × Some trials have no Phase data.	31 drugs   [ 8 drugs ]	17 genes   20 pathways	32 patients Age distribution💬 246. Methylmalonic acidemia × Age Num 0-9 - 10-19 - 20-29 20 30-39 7 40-49 5 50-59 - 60-69 - 70-74 - 75- -
247	Isovaleric acidemia [Met] 💬 "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency" 247. Isovaleric acidemia × [Met] Metabolic diseases	2 trials    | 0 / 0 / 0 / 0 💬 247. Isovaleric acidemia × Some trials have no Phase data.	7 drugs   [ 1 drug ]	-	4 patients Age distribution💬 247. Isovaleric acidemia × Age Num 0-9 - 10-19 - 20-29 1 30-39 2 40-49 1 50-59 - 60-69 - 70-74 - 75- -
248	Glucose transporter type 1 deficiency [Met] 💬 "GLUT1 deficiency" 248. Glucose transporter type 1 deficiency × [Met] Metabolic diseases	31 trials    | 3 / 18 / 5 / 0 💬 248. Glucose transporter type 1 deficiency × Some trials have no Phase data.	12 drugs   [ 2 drugs ]	-	25 patients Age distribution💬 248. Glucose transporter type 1 deficiency × Age Num 0-9 - 10-19 2 20-29 19 30-39 2 40-49 1 50-59 1 60-69 - 70-74 - 75- -
249	Glutaric acidemia type 1 [Met] 💬 249. Glutaric acidemia type 1 × [Met] Metabolic diseases	-	-	-	9 patients Age distribution💬 249. Glutaric acidemia type 1 × Age Num 0-9 - 10-19 - 20-29 8 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
250	Glutaric acidemia type 2 [Met] 💬 "Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD" 250. Glutaric acidemia type 2 × [Met] Metabolic diseases	-	-	-	14 patients Age distribution💬 250. Glutaric acidemia type 2 × Age Num 0-9 2 10-19 - 20-29 4 30-39 3 40-49 - 50-59 2 60-69 1 70-74 - 75- 2
251	Urea cycle disorder [Met] 💬 "Primary hyperammonemia", "Carbamoyl phosphate synthetase I deficiency", "CPSI deficiency", "Ornithine transcarbamylase deficiency", "OTC deficiency", "Classic citrullinemia", "Citrullinemia type I", "Argininosuccinic aciduria", "Argininemia", "N-acetylglutamate synthase deficiency", "NAGS deficiency" 251. Urea cycle disorder × [Met] Metabolic diseases	70 trials    | 28 / 36 / 8 / 3 💬 251. Urea cycle disorder × Some trials have no Phase data.	76 drugs   [ 18 drugs ]	2 genes   4 pathways	117 patients Age distribution💬 251. Urea cycle disorder × Age Num 0-9 - 10-19 1 20-29 66 30-39 19 40-49 18 50-59 7 60-69 4 70-74 - 75- 2
252	Lysinuric protein intolerance [Met] 💬 252. Lysinuric protein intolerance × [Met] Metabolic diseases	-	-	-	26 patients Age distribution💬 252. Lysinuric protein intolerance × Age Num 0-9 - 10-19 - 20-29 7 30-39 6 40-49 6 50-59 7 60-69 - 70-74 - 75- -
253	Congenital folate malabsorption [Met] 💬 "Hereditary folate malabsorption", "Folate malabsorption" 253. Congenital folate malabsorption × [Met] Metabolic diseases	-	-	-	-
254	Porphyria [Met] 💬 "Acute intermittent porphyria", "AIP", "Hereditary coproporphyria", "HCP", "Variegate porphyria", "VP", "Erythropoietic protoporphyria", "EPP", "Porphyria cutanea tarda", "PCT", "Congenital erythropoietic porphyria", "CEP", "X-linked dominant protoporphyria", "XLDP", "Hepatoerythropoietic porphyria", "HEP" 254. Porphyria × [Met] Metabolic diseases	85 trials    | 13 / 22 / 40 / 1 💬 254. Porphyria × Some trials have no Phase data.	67 drugs   [ 18 drugs ]	18 genes   28 pathways	50 patients Age distribution💬 254. Porphyria × Age Num 0-9 - 10-19 1 20-29 8 30-39 16 40-49 5 50-59 16 60-69 2 70-74 2 75- -
255	Multiple carboxylase deficiency [Met] 💬 "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency" 255. Multiple carboxylase deficiency × [Met] Metabolic diseases	2 trials    | 1 / 1 / 0 / 0 💬 255. Multiple carboxylase deficiency × Some trials have no Phase data.	7 drugs   [ - ]	-	7 patients Age distribution💬 255. Multiple carboxylase deficiency × Age Num 0-9 - 10-19 - 20-29 6 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
256	Muscle glycogenosis [Met] 💬 "Muscular glycogenosis", "Muscle glycogen storage disease", "Muscular glycogen storage disease", "Glycogen storage disease type 0", "GSD0", "Glycogen synthase deficiency", "Glycogen storage disease type II", "GSDII", "Pompe disease", "Pompe syndrome", "Alpha-1,4-glucosidase acid deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Cori syndrome", "Forbes disease", "Forbes syndrome", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Glycogen storage disease type V", "GSDV", "McArdle disease", "Muscle phosphorylase deficiency", "Muscular phosphorylase deficiency", "Glycogen storage disease type VII", "GSDVII", "Tarui disease", "Tarui syndrome", "Phosphofructokinase deficiency", "PFK deficiency", "Glycogen storage disease type IXd", "GSDIXd", "Phosphorylase kinase deficiency", "Phosphoglycerate kinase deficiency", "PGK deficiency", "Glycogen storage disease type X", "GSDX", "Phosphoglycerate mutase deficiency", "Glycogen storage diseass type XI", "GSDXI", "Kanno disease", "Lactate dehydrogenase deficiency", "Glycogen storage diseass type XII", "GSDXII", "Aldolase A deficiency", "Glycogen storage diseass type XIII", "GSDXIII", "Beta-enolase deficiency", "Glycogen storage diseass type XIV", "GSDXIV", "Phosphoglucomutase deficiency", "Glycogen storage diseass type XV", "GSDXV", "Glycogenin 1 deficiency" 256. Muscle glycogenosis × [Met] Metabolic diseases	204 trials    | 30 / 56 / 63 / 29 💬 256. Muscle glycogenosis × Some trials have no Phase data.	153 drugs   [ 29 drugs ]	19 genes   59 pathways	30 patients Age distribution💬 256. Muscle glycogenosis × Age Num 0-9 - 10-19 - 20-29 8 30-39 1 40-49 9 50-59 3 60-69 4 70-74 2 75- 3
257	Hepatic glycogenosis [Met] 💬 "Liver glycogenosis", "Hepatic glycogen storage disease", "Liver glycogen storage disease", "Glycogen storage disease type I", "GSDI", "von Gierke disease", "Glucose-6-phosphatase deficiency", "G6Pase deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Cori syndrome", "Forbes disease", "Forbes syndrome", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type VI", "GSDVI", "Hers disease", "Hers syndrome", "Hepatic phosphorylase deficiency", "Liver phosphorylase deficiency", "Glycogen storage disease type IX", "GSDIX", "Phosphorylase kinase deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Adult polyglucosan body disease" 257. Hepatic glycogenosis × [Met] Metabolic diseases	17 trials    | 4 / 7 / 0 / 0 💬 257. Hepatic glycogenosis × Some trials have no Phase data.	32 drugs   [ 8 drugs ]	2 genes   7 pathways	120 patients Age distribution💬 257. Hepatic glycogenosis × Age Num 0-9 - 10-19 - 20-29 50 30-39 32 40-49 25 50-59 7 60-69 4 70-74 2 75- -
258	Galactose-1-phosphate uridylyltransferase deficiency [Met] 💬 "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency" 258. Galactose-1-phosphate uridylyltransferase deficiency × [Met] Metabolic diseases	-	-	-	1 patient Age distribution💬 258. Galactose-1-phosphate uridylyltransferase deficiency × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 1 50-59 - 60-69 - 70-74 - 75- -
259	Lecithin-cholesterol acyltransferase deficiency [Met] 💬 "LCAT deficiency", "Fish-eye disease", "FED" 259. Lecithin-cholesterol acyltransferase deficiency × [Met] Metabolic diseases	2 trials    | 0 / 0 / 0 / 0 💬 259. Lecithin-cholesterol acyltransferase deficiency × Some trials have no Phase data.	3 drugs   [ 1 drug ]	-	4 patients Age distribution💬 259. Lecithin-cholesterol acyltransferase deficiency × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 - 50-59 - 60-69 1 70-74 2 75- 1
260	Sitosterolemia [Met] 💬 260. Sitosterolemia × [Met] Metabolic diseases	13 trials    | 0 / 1 / 4 / 0 💬 260. Sitosterolemia × Some trials have no Phase data.	12 drugs   [ 3 drugs ]	1 gene   1 pathway	21 patients Age distribution💬 260. Sitosterolemia × Age Num 0-9 1 10-19 2 20-29 4 30-39 3 40-49 5 50-59 3 60-69 3 70-74 - 75- -
261	Tangier disease [Met] 💬 261. Tangier disease × [Met] Metabolic diseases	1 trial    | 0 / 0 / 0 / 0 💬 261. Tangier disease × Some trials have no Phase data.	2 drugs   [ 1 drug ]	-	9 patients Age distribution💬 261. Tangier disease × Age Num 0-9 - 10-19 - 20-29 - 30-39 1 40-49 1 50-59 4 60-69 3 70-74 - 75- -
262	Primary hyperchylomicronemia [Met] 💬 262. Primary hyperchylomicronemia × [Met] Metabolic diseases	-	-	-	65 patients Age distribution💬 262. Primary hyperchylomicronemia × Age Num 0-9 - 10-19 - 20-29 17 30-39 7 40-49 13 50-59 21 60-69 5 70-74 1 75- 1
264	Abetalipoproteinemia [Met] 💬 "Microsomal triglyceride transfer protein deficiency", "MTP deficiency" 264. Abetalipoproteinemia × [Met] Metabolic diseases	1 trial    | 0 / 0 / 0 / 0 💬 264. Abetalipoproteinemia × Some trials have no Phase data.	2 drugs   [ - ]	-	5 patients Age distribution💬 264. Abetalipoproteinemia × Age Num 0-9 - 10-19 - 20-29 1 30-39 1 40-49 3 50-59 - 60-69 - 70-74 - 75- -
316	Carnitine cycle disorder [Met] 💬 "Disorders of carnitine transport and the carnitine cycle", "Carnitine palmitoyltransferase I deficiency", "CPT1 deficiency", "Carnitine palmitoyltransferase II deficiency", "CPT2 deficiency", "LC-FAOD", "Carnitine-acylcarnitine translocase deficiency", "CACT deficiency", "Primary Carnitine deficiency", "OCTN2 deficiency" 316. Carnitine cycle disorder × [Met] Metabolic diseases	4 trials    | 0 / 1 / 1 / 0 💬 316. Carnitine cycle disorder × Some trials have no Phase data.	12 drugs   [ 2 drugs ]	2 genes   11 pathways	22 patients Age distribution💬 316. Carnitine cycle disorder × Age Num 0-9 - 10-19 - 20-29 11 30-39 6 40-49 2 50-59 3 60-69 - 70-74 - 75- -
317	Trifunctional protein deficiency [Met] 💬 "TFP deficiency", "LC-FAOD" 317. Trifunctional protein deficiency × [Met] Metabolic diseases	4 trials    | 0 / 0 / 0 / 0 💬 317. Trifunctional protein deficiency × Some trials have no Phase data.	8 drugs   [ 3 drugs ]	1 gene   1 pathway	3 patients Age distribution💬 317. Trifunctional protein deficiency × Age Num 0-9 - 10-19 - 20-29 - 30-39 1 40-49 1 50-59 1 60-69 - 70-74 - 75- -
318	Citrin deficiency [Met] 💬 "Neonatal intrahepatic cholestasis caused by citrin deficiency", "NICCD", "Adult-onset type II citrullinemia", "CTLN2" 318. Citrin deficiency × [Met] Metabolic diseases	5 trials    | 1 / 1 / 0 / 0 💬 318. Citrin deficiency × Some trials have no Phase data.	3 drugs   [ 3 drugs ]	-	81 patients Age distribution💬 318. Citrin deficiency × Age Num 0-9 - 10-19 - 20-29 24 30-39 8 40-49 3 50-59 19 60-69 18 70-74 5 75- 4
319	Sepiapterin reductase deficiency [Met] 💬 319. Sepiapterin reductase deficiency × [Met] Metabolic diseases	-	-	-	2 patients Age distribution💬 319. Sepiapterin reductase deficiency × Age Num 0-9 - 10-19 - 20-29 1 30-39 - 40-49 1 50-59 - 60-69 - 70-74 - 75- -
321	Non-ketotic hyperglycinemia [Met] 💬 "Nonketotic hyperglycinemia", "NKH" 321. Non-ketotic hyperglycinemia × [Met] Metabolic diseases	1 trial    | 0 / 0 / 0 / 0 💬 321. Non-ketotic hyperglycinemia × Some trials have no Phase data.	6 drugs   [ - ]	-	3 patients Age distribution💬 321. Non-ketotic hyperglycinemia × Age Num 0-9 - 10-19 1 20-29 2 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
322	Beta-ketothiolase deficiency [Met] 💬 322. Beta-ketothiolase deficiency × [Met] Metabolic diseases	1 trial    | 0 / 0 / 0 / 0 💬 322. Beta-ketothiolase deficiency × Some trials have no Phase data.	6 drugs   [ - ]	-	-
323	Aromatic L-amino acid decarboxylase deficiency [Met] 💬 323. Aromatic L-amino acid decarboxylase deficiency × [Met] Metabolic diseases	1 trial    | 0 / 1 / 1 / 0 💬 323. Aromatic L-amino acid decarboxylase deficiency × Some trials have no Phase data.	1 drug   [ - ]	-	4 patients Age distribution💬 323. Aromatic L-amino acid decarboxylase deficiency × Age Num 0-9 - 10-19 - 20-29 4 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
324	Methylglutaconic aciduria [Met] 💬 "3-methylglutaconyl-CoA hydratase deficiency", "3-methylglutaconic aciduria", "3-MGA", "3-MGA type I", "Barth syndrome", "3-MGA type II", "Costeff syndrome", "3-MGA type III" 324. Methylglutaconic aciduria × [Met] Metabolic diseases	6 trials    | 0 / 2 / 1 / 1 💬 324. Methylglutaconic aciduria × Some trials have no Phase data.	10 drugs   [ 3 drugs ]	1 gene   10 pathways	1 patient Age distribution💬 324. Methylglutaconic aciduria × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- 1
326	Osteopetrosis [Met] 💬 "Neonatal/infantile osteopetrosis", "Intermediate osteopetrosis", "Delayed-onset osteopetrosis" 326. Osteopetrosis × [Met] Metabolic diseases	18 trials    | 1 / 5 / 3 / 0 💬 326. Osteopetrosis × Some trials have no Phase data.	47 drugs   [ 12 drugs ]	9 genes   58 pathways	22 patients Age distribution💬 326. Osteopetrosis × Age Num 0-9 - 10-19 - 20-29 1 30-39 1 40-49 6 50-59 8 60-69 5 70-74 - 75- 1
336	Familial hypobetalipoproteinemia 1 [Met] 💬 "FHBL1" 336. Familial hypobetalipoproteinemia 1 × [Met] Metabolic diseases	-	-	-	1 patient Age distribution💬 336. Familial hypobetalipoproteinemia 1 × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 - 50-59 1 60-69 - 70-74 - 75- -
337	Homocystinuria [Met] 💬 "Homocystinuria type I", "Cystathionine beta-synthase deficiency", "CBS deficiency", "Homocystinuria type II", "Homocystinuria cblC type", "Cobalamin C deficiency", "cblC deficiency", "Homocystinuria type III", "Methylenetetrahydrofolate reductase deficiency", "MTHFR deficiency" 337. Homocystinuria × [Met] Metabolic diseases	23 trials    | 6 / 9 / 2 / 0 💬 337. Homocystinuria × Some trials have no Phase data.	31 drugs   [ 11 drugs ]	3 genes   26 pathways	33 patients Age distribution💬 337. Homocystinuria × Age Num 0-9 - 10-19 - 20-29 11 30-39 8 40-49 9 50-59 4 60-69 1 70-74 - 75- -
344	Very long-chain acyl-CoA dehydrogenase deficiency [Met] 💬 "Very long-chain acyl-coenzyme A dehydrogenase deficiency", "Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency", "VLCAD deficiency", "VLCADD", "LC-FAOD" 344. Very long-chain acyl-CoA dehydrogenase deficiency × [Met] Metabolic diseases	15 trials    | 0 / 4 / 6 / 0 💬 344. Very long-chain acyl-CoA dehydrogenase deficiency × Some trials have no Phase data.	25 drugs   [ 4 drugs ]	2 genes   11 pathways	-