Disease · MONDO_0019052

inborn errors of metabolism

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. inborn errors of metabolism. Diseases, record MONDO_0019052. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0019052

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Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: inborn errors of metabolism; Open Targets
Open Targets ID: MONDO_0019052; Open Targets
Other names: congenital metabolic disorder, congenital metabolism disorder, hereditary metabolic disease, inborn disorders of metabolism, inborn error of metabolism, inborn metabolic disorder, inherited disorder of metabolism, inherited disorders of metabolism, inherited metabolic disorder; Open Targets
Disease Ontology: DOID:655; Disease Ontology
MeSH: D008661; MeSH
NCI Thesaurus: C34816; NCI Thesaurus
Orphanet: ORPHA:68367; Orphanet
Highest stage of its drugs: Approval, for 4 of its 21 drugs, from EMA Human Drugs and TTD; Open Targets

Drugs21

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
CHOLIC ACID	CHEMBL205596	Small molecule	Approval	EMA Human Drugs	2	0	0	Drugs and targets
BETAINE	CHEMBL95889	Small molecule	Approval	TTD	1	0	0	Drugs and targets
CHENODIOL	CHEMBL240597	Small molecule	Approval	EMA Human Drugs	1	0	0	Drugs and targets
TRIENTINE	CHEMBL609	Small molecule	Approval	TTD	1	0	0	Drugs and targets
BUSULFAN	CHEMBL820	Small molecule	Phase 2/3	ClinicalTrials.gov	6	6	6	Drugs and targets
ANTILYMPHOCYTE IMMUNOGLOBULIN (HORSE)	CHEMBL2108981		Phase 2/3	ClinicalTrials.gov	5	5	0	Drugs and targets
CYCLOPHOSPHAMIDE	CHEMBL1200796	Small molecule	Phase 2/3	ClinicalTrials.gov	5	5	5	Drugs and targets
ALEMTUZUMAB	CHEMBL1201587	Antibody	Phase 2/3	ClinicalTrials.gov	4	4	4	Drugs and targets
FLUDARABINE	CHEMBL1568	Small molecule	Phase 2/3	ClinicalTrials.gov	4	4	4	Drugs and targets
MELPHALAN	CHEMBL852	Small molecule	Phase 2	ClinicalTrials.gov	4	4	4	Drugs and targets

1 to 10 of 21

See all 21 drugs

Targets25

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
RRM1	Ribonucleoside-diphosphate reductase RR1	2	Ribonucleoside-diphosphate reductase RR1 inhibitor	Phase 2	https://conductscience.org/library/genes/6240	Drugs and targets
RRM2	Ribonucleoside-diphosphate reductase RR1	2	Ribonucleoside-diphosphate reductase RR1 inhibitor	Phase 2	https://conductscience.org/library/genes/6241	Drugs and targets
RRM2B	Ribonucleoside-diphosphate reductase RR1	2	Ribonucleoside-diphosphate reductase RR1 inhibitor	Phase 2	https://conductscience.org/library/genes/50484	Drugs and targets
ACACA	Acetyl-CoA carboxylase	1	Acetyl-CoA carboxylase negative allosteric modulator	Unknown	https://conductscience.org/library/genes/31	Drugs and targets
ACACB	Acetyl-CoA carboxylase	1	Acetyl-CoA carboxylase negative allosteric modulator	Unknown	https://conductscience.org/library/genes/32	Drugs and targets
BHMT	Betaine-homocysteine S-methyltransferase	1	Betaine-homocysteine S-methyltransferase substrate	Approval	https://conductscience.org/library/genes/635	Drugs and targets
BHMT2	Betaine-homocysteine S-methyltransferase	1	Betaine-homocysteine S-methyltransferase substrate	Approval	https://conductscience.org/library/genes/23743	Drugs and targets
CD52	CAMPATH-1 antigen	1	CAMPATH-1 antigen inhibitor	Phase 2/3	https://conductscience.org/library/genes/1043	Drugs and targets
CSF3R	Granulocyte colony-stimulating factor receptor	1	Granulocyte colony stimulating factor receptor agonist	Phase 2	https://conductscience.org/library/genes/1441	Drugs and targets
IMPDH1	Inosine-5'-monophosphate dehydrogenase (IMPDH)	1	Inosine-5'-monophosphate dehydrogenase (IMPDH) inhibitor	Phase 2	https://conductscience.org/library/genes/3614	Drugs and targets

1 to 10 of 25

See all 25 targets

Trials9

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 1 more is not shown, since the checks do not confirm it.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT00919503	Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders	Phase 2	98	2021-08-13	Non-Neoplastic Hematologic and Lymphocytic Disorder	FLUDARABINE PHOSPHATE, TREOSULFAN	Its record names the disease	ClinicalTrials.gov
NCT01043640	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders	Phase 2	46	2017-05-12	Mucopolysaccharidosis, Hurler Syndrome, Hunter Syndrome, Maroteaux-Lamy Syndrome, Sly Syndrome, Alpha Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Adrenoleukodystrophy (ALD), Krabbe Disease, Metachromatic Leukodystrophy (MLD), Sphingolipidoses, Peroxisomal Disorders	ALEMTUZUMAB, BUSULFAN, CYCLOPHOSPHAMIDE, CYCLOSPORINE, MYCOPHENOLATE MOFETIL	Open Targets' reading of its record	ClinicalTrials.gov
NCT00744692	Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders	Phase 1	22	2014-08-13	Non Malignant Disorders, Immunodeficiencies, Congenital Marrow Failures, Hemoglobinopathies, Inborn Errors of Metabolism, Sickle Cell, Thalassemia, Lysosomal Storage Disease	ALEMTUZUMAB, FLUDARABINE, HYDROXYUREA, MELPHALAN, THIOTEPA	Its record names the disease	ClinicalTrials.gov
NCT00003913	Umbilical Cord Blood Transplantation in Treating Patients With Hematologic Cancer or Nonmalignant Hematologic Disease	Phase 2	390		Leukemia, Lymphoma, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Diseases	BUSULFAN, CYCLOPHOSPHAMIDE, FILGRASTIM, METHYLPREDNISOLONE	Its record names the disease	ClinicalTrials.gov
NCT02171104	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis	Phase 2	149		Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome, Sly Syndrome, Alpha-Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Glycoprotein Metabolic Disorders, Sphingolipidoses, Recessive Leukodystrophies, Globoid Cell Leukodystrophy, Metachromatic Leukodystrophy, Niemann-Pick B, Niemann-Pick C Subtype 2, Sphingomyelin Deficiency, Peroxisomal Disorders, Adrenoleukodystrophy With Cerebral Involvement, Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, Acyl-CoA Oxidase Deficiency, D-Bifunctional Enzyme Deficiency, Multifunctional Enzyme Deficiency, Alpha-methylacyl-CoA Racmase Deficiency, Mitochondrial Neurogastrointestingal Encephalopathy, Severe Osteopetrosis, Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation), Inherited Metabolic Disorders	BUSULFAN, FLUDARABINE	Open Targets' reading of its record	ClinicalTrials.gov
NCT01962415	Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT	Phase 2	100		Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias, Inflammatory Conditions, Systemic Juvenile Idiopathic Arthritis (sJIA), Juvenile Rheumatoid Arthritis (JRA)	ALEMTUZUMAB, FLUDARABINE, HYDROXYUREA, MELPHALAN, THIOTEPA	Its record names the disease	ClinicalTrials.gov
NCT00003662	Umbilical Cord Blood Transplantation in Treating Patients With Hematologic Cancer or Other Hematologic or Metabolic Diseases	Phase 2	90		Graft Versus Host Disease, Leukemia, Myelodysplastic Syndromes, Thymic Carcinoma	BUSULFAN, CYCLOPHOSPHAMIDE, CYCLOSPORINE, MELPHALAN, METHYLPREDNISOLONE	Its record names the disease	ClinicalTrials.gov
NCT00290628	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer	Not applicable	43		Chronic Myeloproliferative Disorders, Diamond-blackfan Anemia, Fanconi Anemia, Graft Versus Host Disease, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes, Myelodysplastic/Myeloproliferative Diseases	BUSULFAN, CYCLOPHOSPHAMIDE, CYCLOSPORINE, FILGRASTIM, MELPHALAN, METHYLPREDNISOLONE, MYCOPHENOLATE MOFETIL	Its record names the disease	ClinicalTrials.gov
NCT01019876	Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases	Phase 2/3	38		Bone Marrow Failure, Osteopetrosis, Fanconi Anemia, Severe Combined Immunodeficiency	ALEMTUZUMAB, BUSULFAN, CYCLOPHOSPHAMIDE, FLUDARABINE	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials10

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Regimen A (PBSCT and BMT) vs Regimen B (UBCT): Number of Participants With Infections	57 of 84	9 of 14	98	NCT00919503	Trial comparisons
Regimen A (PBSCT and BMT) vs Regimen B (UBCT): deaths from any cause	7 of 84	6 of 14	98	NCT00919503	Trial comparisons
Regimen A (PBSCT and BMT) vs Regimen B (UBCT): Overall Survival	80 of 84	9 of 14	98	NCT00919503	Trial comparisons
Regimen A (PBSCT and BMT) vs Regimen B (UBCT): Non-relapse Mortality	2 of 84	5 of 14	98	NCT00919503	Trial comparisons
Regimen A (PBSCT and BMT) vs Regimen B (UBCT): serious adverse events	17 of 84	5 of 14	98	NCT00919503	Trial comparisons
Regimen A (PBSCT and BMT) vs Regimen B (UBCT): Number of Patients With Grade II-IV Acute Graft-versus-host Disease	44 of 84	8 of 12	96	NCT00919503	Trial comparisons
Regimen A (PBSCT and BMT) vs Regimen B (UBCT): Disease Response at One Year Following Hematopoietic Cell Transplantation	78 of 84	8 of 11	95	NCT00919503	Trial comparisons
Regimen A (PBSCT and BMT) vs Regimen B (UBCT): Preliminary Efficacy	83 of 84	10 of 11	95	NCT00919503	Trial comparisons
Regimen A (PBSCT and BMT) vs Regimen B (UBCT): Number of Patients With of Chronic Graft-versus-host Disease	29 of 84	5 of 11	95	NCT00919503	Trial comparisons
Regimen A (PBSCT and BMT) vs Regimen B (UBCT): Immune Reconstitution Following Hematopoietic Cell Transplantation	39 of 73	4 of 9	82	NCT00919503	Trial comparisons

Papers from its trials3

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
32750127	RESULT	1	PubMed
32634238	DERIVED	1	PubMed
24296492	DERIVED	1	PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0019052

GET https://conductscience.org/api/diseases/v1/MONDO_0019052/drugs?page=2

API reference For AI assistants