Methylmalonic acidemia

Summary

Methylmalonic acidemia (MONDO:0002012) is a disease (an umbrella term covering 7 Mondo subtypes) with 6 cohort genes and 23 clinical trials. The dominant Reactome pathway is Propionyl-CoA catabolism (3 cohort genes). Top therapeutic interventions include carglumic acid and hydroxocobalamin.

At a glance

• Umbrella term: 7 Mondo subtypes
• Cohort genes: 6
• ClinVar variants: 196
• Clinical trials: 23

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	methylmalonic acidemia
Mondo ID	MONDO:0002012
MeSH	C537358
OMIM	251000
DOID	DOID:14749
ICD-10-CM	E71.120
NCIT	C98986
SNOMED CT	42393006
UMLS	C0268583
MedGen	120654
GARD	0007033
Is cancer (heuristic)	no

Also known as: methylmalonic acidemia, cblA type · methylmalonic acidemia, cblB type · methylmalonic aciduria · methylmalonic aciduria cblB type · methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency · methylmalonic aciduria mut type · methylmalonic aciduria type cblA · methylmalonic aciduria type cblB · methylmalonic aciduria, mut type · methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type · methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type · METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency · METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin–Cbl A · METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin–Cbl B

Data availability: 196 ClinVar variants · 1 GenCC gene-disease record · 244 cell lines.

Disease family

An umbrella term covering 7 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn disorder of amino acid and other organic acid metabolism › inborn disorder of amino acid metabolism › inborn organic aciduria › methylmalonic acidemia

Related subtypes (6): glutaryl-CoA dehydrogenase deficiency, glutaric acidemia type 3, malonic aciduria, maple syrup urine disease, methylmalonate semialdehyde dehydrogenase deficiency, classic organic aciduria

Subtypes (7): methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, methylmalonic acidemia due to transcobalamin receptor defect, combined malonic and methylmalonic acidemia, methylmalonic aciduria and homocystinuria, vitamin B12-responsive methylmalonic acidemia, isolated methylmalonic aciduria cblD type

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

196 retrieved; paginated sample, class counts are floors:

69 pathogenic, 44 uncertain significance, 31 pathogenic/likely pathogenic, 16 likely benign, 12 conflicting classifications of pathogenicity, 12 likely pathogenic, 11 benign, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
419126	NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)	ACSF3	Pathogenic	criteria provided, multiple submitters, no conflicts
2343	NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)	MCEE	Pathogenic	criteria provided, multiple submitters, no conflicts
1073197	NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	MMAA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
203814	NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	MMAA	Pathogenic	criteria provided, multiple submitters, no conflicts
203815	NM_172250.3(MMAA):c.593_596del (p.Thr198fs)	MMAA	Pathogenic	criteria provided, multiple submitters, no conflicts
203816	NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)	MMAA	Pathogenic	criteria provided, multiple submitters, no conflicts
218969	NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	MMAA	Pathogenic	criteria provided, multiple submitters, no conflicts
218976	NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)	MMAA	Pathogenic	criteria provided, multiple submitters, no conflicts
3158	NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)	MMAA	Pathogenic	criteria provided, multiple submitters, no conflicts
3160	NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	MMAA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
440805	NM_172250.3(MMAA):c.658G>A (p.Val220Met)	MMAA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
466217	NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)	MMAA	Pathogenic	criteria provided, multiple submitters, no conflicts
496554	NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)	MMAA	Pathogenic	criteria provided, multiple submitters, no conflicts
550209	NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	MMAA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
551182	NM_172250.3(MMAA):c.450dup (p.Pro151fs)	MMAA	Pathogenic	criteria provided, multiple submitters, no conflicts
1173993	NM_052845.4(MMAB):c.367del (p.Asp123fs)	MMAB	Pathogenic	criteria provided, multiple submitters, no conflicts
203819	NM_052845.4(MMAB):c.569G>A (p.Arg190His)	MMAB	Pathogenic	criteria provided, multiple submitters, no conflicts
203820	NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)	MMAB	Pathogenic	criteria provided, multiple submitters, no conflicts
203822	NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)	MMAB	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
219004	NM_052845.4(MMAB):c.291-1G>A	MMAB	Pathogenic	criteria provided, multiple submitters, no conflicts
219008	NM_052845.4(MMAB):c.197-1G>T	MMAB	Pathogenic	criteria provided, multiple submitters, no conflicts
284356	NM_052845.4(MMAB):c.625G>A (p.Val209Met)	MMAB	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3095	NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	MMAB	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
550793	NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	MMAB	Pathogenic	criteria provided, multiple submitters, no conflicts
551214	NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)	MMAB	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
552212	NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)	MMAB	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
100707	NM_000255.4(MMUT):c.323G>A (p.Arg108His)	MMUT	Pathogenic	criteria provided, multiple submitters, no conflicts
1069591	NM_000255.4(MMUT):c.1658del (p.Val553fs)	MMUT	Pathogenic	criteria provided, multiple submitters, no conflicts
1075640	NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala)	MMUT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1499715	NM_000255.4(MMUT):c.785G>A (p.Ser262Asn)	MMUT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
ZNF143	Moderate	Autosomal recessive	methylmalonic acidemia

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MCEE	Orphanet:308425	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
MMAA	Orphanet:79310	Vitamin B12-responsive methylmalonic acidemia type cblA
MMAB	Orphanet:79311	Vitamin B12-responsive methylmalonic acidemia type cblB
ACSF3	Orphanet:289504	Combined malonic and methylmalonic acidemia
MMUT	Orphanet:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
MMUT	Orphanet:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-

Cohort genes → proteins

6 cohort genes, 6 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	6

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ZNF143	HGNC:12928	ENSG00000166478	P52747	Zinc finger protein 143	gencc
MCEE	HGNC:16732	ENSG00000124370	Q96PE7	Methylmalonyl-CoA epimerase, mitochondrial	clinvar
MMAA	HGNC:18871	ENSG00000151611	Q8IVH4	Methylmalonic aciduria type A protein, mitochondrial	clinvar
MMAB	HGNC:19331	ENSG00000139428	Q96EY8	Corrinoid adenosyltransferase MMAB	clinvar
ACSF3	HGNC:27288	ENSG00000176715	Q4G176	Malonate–CoA ligase ACSF3, mitochondrial	clinvar
MMUT	HGNC:7526	ENSG00000146085	P22033	Methylmalonyl-CoA mutase, mitochondrial	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ZNF143	Zinc finger protein 143	Transcription factor that activates expression of genes transcribed by both RNA polymerases II and III, and which is required to safeguard mitochondrial activity.
MCEE	Methylmalonyl-CoA epimerase, mitochondrial	Methylmalonyl-CoA epimerase involved in propionyl-CoA metabolism.
MMAA	Methylmalonic aciduria type A protein, mitochondrial	GTPase, binds and hydrolyzes GTP.
MMAB	Corrinoid adenosyltransferase MMAB	Converts cob(I)alamin to adenosylcobalamin (adenosylcob(III)alamin), a coenzyme for methylmalonyl-CoA mutase, therefore participates in the final step of the vitamin B12 conversion.
ACSF3	Malonate–CoA ligase ACSF3, mitochondrial	Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester.
MMUT	Methylmalonyl-CoA mutase, mitochondrial	Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key inte…

Protein-family classification

Druggable: 3 · Difficult: 1 · Unknown: 2 · Druggable fraction: 0.5

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Enzyme (other)	3	6.0×	0.029
Transcription factor	1	1.4×	0.809
Other/Unknown	2	0.6×	0.936

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ZNF143	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf
MCEE	Enzyme (other)	yes	5.1.99.1	MeMalonyl-CoA_epimerase, Glyas_Bleomycin-R_OHBP_Dase, VOC_core
MMAA	Other/Unknown	no		GTPase_ArgK, P-loop_NTPase
MMAB	Enzyme (other)	yes	2.5.1.17	CblAdoTrfase-like, PduO-typ, CblAdoTrfase-like_sf
ACSF3	Other/Unknown	no		AMP-dep_synth/lig_dom, AMP-binding_CS, AMP-bd_C
MMUT	Enzyme (other)	yes	5.4.99.2	MMCoA_mutase_a_cat, MeMalonylCoA_mutase_a/b_cat, Cobalamin-bd

Expression context

Cohort genes with no expression data: 0.

5 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	6
unknown	0

Top tissues across cohort

Tissue	Cohort genes
right lobe of liver	2
oocyte	2
right adrenal gland	2
calcaneal tendon	1
ganglionic eminence	1
ventricular zone	1
body of pancreas	1
left ventricle myocardium	1
secondary oocyte	1
tibialis anterior	1
right adrenal gland cortex	1
granulocyte	1
mucosa of transverse colon	1
choroid plexus epithelium	1
nephron tubule	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ZNF143	262	ubiquitous	marker	calcaneal tendon, ventricular zone, ganglionic eminence
MCEE	249	ubiquitous	marker	body of pancreas, right lobe of liver, left ventricle myocardium
MMAA	251	ubiquitous	yes	secondary oocyte, oocyte, tibialis anterior
MMAB	235	ubiquitous	marker	right lobe of liver, right adrenal gland cortex, right adrenal gland
ACSF3	173	ubiquitous	marker	mucosa of transverse colon, granulocyte, right adrenal gland
MMUT	296	ubiquitous	marker	choroid plexus epithelium, oocyte, nephron tubule

Protein interactions among cohort

Intra-cohort edges: 8.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MMUT	3,709
ACSF3	2,854
MCEE	2,320
ZNF143	1,892
MMAB	1,121
MMAA	305

Intra-cohort edges

A	B	Sources
ACSF3	MCEE	string_interaction
ACSF3	MMAB	string_interaction
MCEE	MMAA	string_interaction
MCEE	MMAB	string_interaction
MCEE	MMUT	string_interaction
MMAA	MMAB	string_interaction
MMAA	MMUT	intact, string_interaction
MMAB	MMUT	string_interaction

Structural data

PDB: 4 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MMAB	Q96EY8	6
MMUT	P22033	6
MCEE	Q96PE7	2
MMAA	Q8IVH4	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ACSF3	Q4G176	86.58
ZNF143	P52747	50.91

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 23. Enrichment computed across 6 evidence-associated genes (6 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Propionyl-CoA catabolism	3	1142.0×	2e-08	MCEE, MMAA, MMUT
Cobalamin (Cbl) metabolism	3	634.4×	8e-08	MMAA, MMAB, MMUT
Defects in cobalamin (B12) metabolism	3	407.9×	2e-07	MMAA, MMAB, MMUT
Fatty acid metabolism	4	87.5×	3e-07	MCEE, MMAA, ACSF3, MMUT
Cobalamin (Cbl, vitamin B12) transport and metabolism	3	317.2×	3e-07	MMAA, MMAB, MMUT
Defects in vitamin and cofactor metabolism	3	300.5×	3e-07	MMAA, MMAB, MMUT
Defective MMAA causes MMA, cblA type	2	1903.3×	5e-07	MMAA, MMUT
Defective MUT causes MMAM	2	1903.3×	5e-07	MMAA, MMUT
Diseases of mitochondrial beta oxidation	2	1903.3×	5e-07	MMAA, MMUT
Diseases of propionyl-CoA catabolism	2	1903.3×	5e-07	MMAA, MMUT
Mitochondrial Fatty Acid Beta-Oxidation	3	190.3×	7e-07	MCEE, MMAA, MMUT
Metabolism of water-soluble vitamins and cofactors	3	90.6×	6e-06	MMAA, MMAB, MMUT
Metabolism of vitamins and cofactors	3	58.3×	2e-05	MMAA, MMAB, MMUT
Metabolism of lipids	4	21.0×	2e-05	MCEE, MMAA, ACSF3, MMUT
Metabolism	5	9.7×	4e-05	MCEE, MMAA, MMAB, ACSF3, MMUT
Diseases of metabolism	3	40.2×	5e-05	MMAA, MMAB, MMUT
Defective MMAB causes MMA, cblB type	1	951.7×	0.001	MMAB
Disease	3	6.5×	0.010	MMAA, MMAB, MMUT
Synthesis of very long-chain fatty acyl-CoAs	1	76.1×	0.016	ACSF3
Fatty acyl-CoA biosynthesis	1	73.2×	0.016	ACSF3
RNA Polymerase III Transcription Initiation From Type 3 Promoter	1	68.0×	0.016	ZNF143
RNA Polymerase III Abortive And Retractive Initiation	1	46.4×	0.022	ZNF143
RNA polymerase II transcribes snRNA genes	1	25.7×	0.038	ZNF143

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
succinyl-CoA biosynthetic process	2	2808.7×	2e-06	MMAA, MMUT
cobalamin metabolic process	2	510.7×	5e-05	MMAA, MMAB
obsolete propionate metabolic process, methylmalonyl pathway	1	2808.7×	0.001	MMUT
L-methylmalonyl-CoA metabolic process	1	2808.7×	0.001	MCEE
malonate catabolic process	1	2808.7×	0.001	ACSF3
short-chain fatty acid catabolic process	1	936.2×	0.003	MCEE
homocysteine metabolic process	1	312.1×	0.007	MMUT
regulation of transcription by RNA polymerase III	1	280.9×	0.007	ZNF143
long-chain fatty-acyl-CoA biosynthetic process	1	140.4×	0.013	ACSF3
fatty acid biosynthetic process	1	58.5×	0.027	ACSF3
positive regulation of GTPase activity	1	46.0×	0.031	MMUT
post-embryonic development	1	34.2×	0.038	MMUT
fatty acid metabolic process	1	32.3×	0.038	ACSF3
regulation of DNA-templated transcription	1	5.3×	0.201	ZNF143
positive regulation of transcription by RNA polymerase II	1	2.5×	0.364	ZNF143
regulation of transcription by RNA polymerase II	1	1.9×	0.416	ZNF143

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 6

Druggability breadth: 2 of 6 evidence-associated genes (33%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ZNF143	0	0
MCEE	0	0
MMAA	0	0
MMAB	0	0
ACSF3	0	0
MMUT	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
MMAB	1	Binding:1
ACSF3	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
MCEE	5.1.99.1	methylmalonyl-CoA epimerase
MMAB	2.5.1.17	corrinoid adenosyltransferase
MMUT	5.4.99.2	methylmalonyl-CoA mutase

Pharmacogenomics

Cohort genes with a PharmGKB record: 6; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	3	MCEE, MMAB, MMUT
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	3	ZNF143, MMAA, ACSF3

Undrugged target profiles

6 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
ZNF143	0	—
MCEE	0	—
MMAA	0	—
MMAB	1	—
ACSF3	1	—
MMUT	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 23.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	11
PHASE1/PHASE2	5
PHASE2	4
PHASE3	2
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07163364	PHASE3	NOT_YET_RECRUITING	A Study to Evaluate the Effects and Safety of Hydroxocobalamin in Participants With Combined Methylmalonic Academia (cblC Type)
NCT02426775	PHASE3	COMPLETED	Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia
NCT05295433	PHASE1/PHASE2	RECRUITING	An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705
NCT01341379	PHASE2	WITHDRAWN	Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
NCT01597440	PHASE2	TERMINATED	Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
NCT01599286	PHASE2	COMPLETED	Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
NCT03810690	PHASE1/PHASE2	WITHDRAWN	Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia
NCT04581785	PHASE1/PHASE2	TERMINATED	Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic Acidemia
NCT04732429	PHASE2	TERMINATED	Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia
NCT04899310	PHASE1/PHASE2	TERMINATED	A Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemia
NCT05778877	PHASE1/PHASE2	WITHDRAWN	A Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of SEL-302 in Pediatric Subjects With MMA
NCT04836494	PHASE1	TERMINATED	A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia
NCT00078078	Not specified	RECRUITING	Clinical and Laboratory Study of Methylmalonic Acidemia
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04176523	Not specified	RECRUITING	Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach
NCT05040178	Not specified	RECRUITING	An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
NCT05506254	Not specified	ACTIVE_NOT_RECRUITING	Long-term Follow-up Study of Patients Who Received hLB-001 Gene Therapy
NCT06664840	Not specified	NOT_YET_RECRUITING	MyRareDiet A Novel Diet Tracking Tool
NCT07432880	Not specified	NOT_YET_RECRUITING	A Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (MMA) Due to Mutations in the MMUT Gene
NCT01289158	Not specified	UNKNOWN	Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
NCT03484767	Not specified	COMPLETED	The MaP Study: Mapping the Patient Journey in MMA and PA
NCT05330039	Not specified	COMPLETED	Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)
NCT05438485	Not specified	TERMINATED	Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CARGLUMIC ACID	4	4
HYDROXOCOBALAMIN	4	1
CHEMBL1891960	0	3