Systemic primary carnitine deficiency disease

Summary

Systemic primary carnitine deficiency disease (MONDO:0008919) is a disease caused by SLC22A5 (GenCC Definitive), with 7 cohort genes and 6 clinical trials. Top therapeutic interventions include levocarnitine, carnitine, and dextrocarnitine.

At a glance

• Prevalence: 6-9 / 10 000 (Faroe Islands) [Orphanet-validated]
• Causal gene: SLC22A5 (GenCC Definitive)
• Cohort genes: 7
• ClinVar variants: 1,231
• Phenotypes (HPO): 9
• Clinical trials: 6

Clinical features

Epidemiology

Prevalence records

7 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 100 000	3.2	Europe	Validated
Annual incidence	>1 / 1000	138.9	Faroe Islands	Validated
Point prevalence	6-9 / 10 000	77	Faroe Islands	Validated
Point prevalence	<1 / 1 000 000	0.0069	China	Validated
Prevalence at birth	1-9 / 100 000	3.2	United States	Validated
Prevalence at birth	1-9 / 100 000	2.5	Japan	Validated
Prevalence at birth	1-9 / 1 000 000	0.83	Australia	Validated

Signs & symptoms

Clinical features (HPO)

9 HPO clinical features (Orphanet curated; top 9 by frequency):

HPO ID	Term	Frequency
HP:0000467	Neck muscle weakness	Very frequent (80-99%)
HP:0001289	Confusion	Very frequent (80-99%)
HP:0001324	Muscle weakness	Very frequent (80-99%)
HP:0002013	Vomiting	Very frequent (80-99%)
HP:0002240	Hepatomegaly	Very frequent (80-99%)
HP:0002312	Clumsiness	Very frequent (80-99%)
HP:0002910	Elevated circulating hepatic transaminase concentration	Very frequent (80-99%)
HP:0006846	Acute encephalopathy	Very frequent (80-99%)
HP:0007334	Bilateral tonic-clonic seizure with focal onset	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	systemic primary carnitine deficiency disease
Mondo ID	MONDO:0008919
MeSH	C536778
OMIM	212140
Orphanet	158
DOID	DOID:14365
ICD-10-CM	E71.41
NCIT	C98864
SNOMED CT	21764004
UMLS	C0342788
MedGen	90999
GARD	0005104
Is cancer (heuristic)	no

Also known as: Carnitine deficiency · CARNITINE deficiency, systemic primary · Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine · Carnitine plasma-membrane transporter deficiency · Carnitine transporter defect · carnitine transporter deficiency · carnitine uptake defect · Carnitine uptake deficiency · CDSP · CUD · cud · deficiency of plasma-membrane carnitine transporter · primary carnitine deficiency · renal carnitine transport defect · SPCD · systemic primary carnitine deficiency disease

Data availability: 1,231 ClinVar variants · 7 GenCC gene-disease records · 2 cell lines.

Disease family

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 › systemic primary carnitine deficiency disease

Related subtypes (32): disorder of methionine catabolism, inborn serine deficiency, cerebral creatine deficiency syndrome, inborn organic aciduria, gamma-amino butyric acid metabolism disorder, homocystinuria, urea cycle disorder, adenylosuccinate lyase deficiency, cystathioninuria, hyperlysinemia, Brunner syndrome, glycine encephalopathy, aminoacylase 1 deficiency, adenine phosphoribosyltransferase deficiency, hyperphenylalaninemia due to tetrahydrobiopterin deficiency, inborn disorder of tryptophan metabolism, inborn disorder of proline metabolism, inborn disorder of ornithine metabolism, inborn disorder of amino acid transport, inborn disorder of histidine metabolism, inborn disorder of phenylalanine and tyrosine metabolism, inborn disorder of branched-chain amino acid metabolism, arakawa syndrome 2, 2-methylacetoacetyl CoA thiolase deficiency, albinism, hyperphenylalaninemia due to DNAJC12 deficiency, inborn disorder of the metabolism of sulfur-containing amino acids and hydrogen sulfide, inborn disorder of glycine and serine metabolism, inborn disorder of ornithine, proline and hydroxyproline metabolism, inborn disorder of glutamate/glutamine and aspartate/asparagine metabolism, hyperglycinemia, transient neonatal, tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia

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

600 retrieved; paginated sample, class counts are floors:

229 likely benign, 197 uncertain significance, 49 pathogenic, 41 conflicting classifications of pathogenicity, 41 pathogenic/likely pathogenic, 30 likely pathogenic, 10 benign, 3 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1206321	NM_020812.4(DOCK6):c.3190_3191del (p.Leu1064fs)	DOCK6	Pathogenic	criteria provided, multiple submitters, no conflicts
25340	NM_003060.4(SLC22A5):c.-149G>A	LOC129994569	Pathogenic	criteria provided, multiple submitters, no conflicts
1042938	NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr)	SLC22A5	Pathogenic	criteria provided, single submitter
1068475	NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser)	SLC22A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1068602	NC_000005.9:g.(?131713846)(131714183_?)del	SLC22A5	Pathogenic	criteria provided, single submitter
1068603	NC_000005.9:g.(?131719829)(131728317_?)del	SLC22A5	Pathogenic	criteria provided, single submitter
1068932	NM_003060.4(SLC22A5):c.37G>T (p.Glu13Ter)	SLC22A5	Pathogenic	criteria provided, single submitter
1069784	NM_003060.4(SLC22A5):c.1240del (p.Leu414fs)	SLC22A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1070131	NM_003060.4(SLC22A5):c.587_588del (p.Phe196fs)	SLC22A5	Pathogenic	criteria provided, single submitter
1070906	NM_003060.4(SLC22A5):c.844dup (p.Arg282fs)	SLC22A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071451	NM_003060.4(SLC22A5):c.2T>C (p.Met1Thr)	SLC22A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072441	NM_003060.4(SLC22A5):c.1347C>A (p.Tyr449Ter)	SLC22A5	Pathogenic	criteria provided, single submitter
1074182	NM_003060.4(SLC22A5):c.479C>A (p.Ser160Ter)	SLC22A5	Pathogenic	criteria provided, single submitter
1367433	NM_003060.4(SLC22A5):c.1350del (p.Ala451fs)	SLC22A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1398476	NM_003060.4(SLC22A5):c.860_861del (p.Gln287fs)	SLC22A5	Pathogenic	criteria provided, single submitter
1417216	NM_003060.4(SLC22A5):c.328C>T (p.Gln110Ter)	SLC22A5	Pathogenic	criteria provided, single submitter
1419604	NM_003060.4(SLC22A5):c.1446C>G (p.Tyr482Ter)	SLC22A5	Pathogenic	criteria provided, single submitter
1424747	NM_003060.4(SLC22A5):c.847T>C (p.Trp283Arg)	SLC22A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1424767	NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)	SLC22A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1426461	NM_003060.4(SLC22A5):c.976C>T (p.Gln326Ter)	SLC22A5	Pathogenic	criteria provided, single submitter
1430105	NM_003060.4(SLC22A5):c.69_71del (p.Phe23del)	SLC22A5	Pathogenic	criteria provided, single submitter
1432590	NM_003060.4(SLC22A5):c.835G>T (p.Glu279Ter)	SLC22A5	Pathogenic	criteria provided, single submitter
1451189	NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter)	SLC22A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1451545	NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)	SLC22A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1451891	NM_003060.4(SLC22A5):c.802del (p.Val268fs)	SLC22A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1452650	NM_003060.4(SLC22A5):c.1289del (p.Val430fs)	SLC22A5	Pathogenic	criteria provided, single submitter
1453057	NM_003060.4(SLC22A5):c.449del (p.Phe150fs)	SLC22A5	Pathogenic	criteria provided, single submitter
1453608	NM_003060.4(SLC22A5):c.494_497del (p.Asp165fs)	SLC22A5	Pathogenic	criteria provided, single submitter
1455669	NC_000005.9:g.(?131713846)(131720003_?)del	SLC22A5	Pathogenic	criteria provided, single submitter
1456659	NM_003060.4(SLC22A5):c.1412G>C (p.Arg471Pro)	SLC22A5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 9 · Orphanet: 3 · 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
SLC22A5	Definitive	Autosomal recessive	systemic primary carnitine deficiency disease	9

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SLC22A5	Orphanet:158	Systemic primary carnitine deficiency
ZBTB18	Orphanet:36367	Distal deletion 1q syndrome
DOCK6	Orphanet:974	Adams-Oliver syndrome

Cohort genes → proteins

7 cohort genes, 6 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	7

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SLC22A5	HGNC:10969	ENSG00000197375	O76082	Organic cation/carnitine transporter 2	gencc,clinvar
SLC22A4	HGNC:10968	ENSG00000197208	Q9H015	Solute carrier family 22 member 4	clinvar
ZBTB18	HGNC:13030	ENSG00000179456	Q99592	Zinc finger and BTB domain-containing protein 18	clinvar
ACSL6	HGNC:16496	ENSG00000164398	Q9UKU0	Long-chain-fatty-acid–CoA ligase 6	clinvar
DOCK6	HGNC:19189	ENSG00000130158	Q96HP0	Dedicator of cytokinesis protein 6	clinvar
RNF167	HGNC:24544	ENSG00000108523	Q9H6Y7	E3 ubiquitin-protein ligase RNF167	clinvar
MIR3936HG	HGNC:40538	ENSG00000233006		MIR3936 host gene	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SLC22A5	Organic cation/carnitine transporter 2	Sodium-ion dependent, high affinity carnitine transporter.
SLC22A4	Solute carrier family 22 member 4	Transporter that mediates the transport of endogenous and microbial zwitterions and organic cations.
ZBTB18	Zinc finger and BTB domain-containing protein 18	Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development.
ACSL6	Long-chain-fatty-acid–CoA ligase 6	Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation.
DOCK6	Dedicator of cytokinesis protein 6	Acts as a guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases.
RNF167	E3 ubiquitin-protein ligase RNF167	E3 ubiquitin-protein ligase that acts as a regulator of the TORC1 signaling pathway.

Protein-family classification

Druggable: 3 · Difficult: 2 · Unknown: 2 · Druggable fraction: 0.43

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
Transporter	2	22.2×	0.013
Transcription factor	2	2.4×	0.408
Enzyme (other)	1	1.7×	0.609
Other/Unknown	2	0.5×	0.968

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SLC22A5	Transporter	yes		Orgcat_transp/SVOP, MFS_sugar_transport-like, Sugar_transporter_CS
SLC22A4	Transporter	yes		Orgcat_transp/SVOP, MFS_sugar_transport-like, Sugar_transporter_CS
ZBTB18	Transcription factor	no		BTB/POZ_dom, SKP1/BTB/POZ_sf, Znf_C2H2_type
ACSL6	Enzyme (other)	yes	6.2.1.3	AMP-dep_synth/lig_dom, AMP-binding_CS, ANL_N_sf
DOCK6	Other/Unknown	no		DOCK_C/D_N, DOCK, C2_DOCK-type_domain
RNF167	Transcription factor	no		Znf_RING, PA_domain, Znf_RING-CH
MIR3936HG	Other/Unknown	no

Expression context

Cohort genes with no expression data: 0.

7 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)	7
unknown	0

Top tissues across cohort

Tissue	Cohort genes
mucosa of transverse colon	2
apex of heart	2
gastrocnemius	1
muscle of leg	1
bronchial epithelial cell	1
bronchus	1
epithelium of bronchus	1
cerebellar vermis	1
cortical plate	1
paraflocculus	1
Brodmann (1909) area 23	1
lateral nuclear group of thalamus	1
primary visual cortex	1
colonic epithelium	1
right lung	1
granulocyte	1
adenohypophysis	1
metanephros cortex	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SLC22A5	235	ubiquitous	marker	gastrocnemius, mucosa of transverse colon, muscle of leg
SLC22A4	201	ubiquitous	marker	bronchial epithelial cell, epithelium of bronchus, bronchus
ZBTB18	292	ubiquitous	marker	cerebellar vermis, paraflocculus, cortical plate
ACSL6	210	broad	marker	lateral nuclear group of thalamus, Brodmann (1909) area 23, primary visual cortex
DOCK6	254	ubiquitous	marker	colonic epithelium, right lung, apex of heart
RNF167	288	ubiquitous	marker	granulocyte, apex of heart, mucosa of transverse colon
MIR3936HG	169	broad	marker	metanephros cortex, adenohypophysis, right uterine tube

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ACSL6	2,236
SLC22A4	1,615
ZBTB18	1,520
SLC22A5	1,492
DOCK6	1,018
RNF167	791
MIR3936HG	0

Intra-cohort edges

A	B	Sources
SLC22A4	SLC22A5	intact

Structural data

PDB: 3 · AlphaFold-only: 3 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
DOCK6	Q96HP0	7
SLC22A5	O76082	3
ZBTB18	Q99592	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ACSL6	Q9UKU0	90.15
SLC22A4	Q9H015	85.07
RNF167	Q9H6Y7	79.08

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 19. Enrichment computed across 7 evidence-associated genes (4 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 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
SLC-mediated transport of organic cations	2	380.7×	9e-05	SLC22A5, SLC22A4
R-HSA-549132	2	380.7×	9e-05	SLC22A5, SLC22A4
R-HSA-425366	2	90.6×	0.001	SLC22A5, SLC22A4
Fatty acid metabolism	2	65.6×	0.002	SLC22A5, ACSL6
Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)	1	1427.5×	0.003	SLC22A5
SLC-mediated transmembrane transport	2	29.6×	0.005	SLC22A5, SLC22A4
Choline catabolism	1	356.9×	0.008	SLC22A4
Carnitine shuttle	1	190.3×	0.012	SLC22A5
Metabolism of lipids	2	15.8×	0.012	SLC22A5, ACSL6
Synthesis of very long-chain fatty acyl-CoAs	1	114.2×	0.014	ACSL6
Fatty acyl-CoA biosynthesis	1	109.8×	0.014	ACSL6
Transport of small molecules	2	12.6×	0.014	SLC22A5, SLC22A4
SLC transporter disorders	1	51.0×	0.028	SLC22A5
Disorders of transmembrane transporters	1	34.8×	0.039	SLC22A5
Metabolism	2	5.8×	0.050	SLC22A5, ACSL6
CDC42 GTPase cycle	1	18.1×	0.064	DOCK6
Factors involved in megakaryocyte development and platelet production	1	16.6×	0.066	DOCK6
RAC1 GTPase cycle	1	15.3×	0.067	DOCK6
Disease	1	3.3×	0.273	SLC22A5

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
carnitine transport	2	1404.3×	2e-05	SLC22A5, SLC22A4
quaternary ammonium group transport	2	1123.5×	2e-05	SLC22A5, SLC22A4
sodium ion transport	2	90.6×	0.003	SLC22A5, SLC22A4
sulfur amino acid transport	1	2808.7×	0.004	SLC22A4
acetylcholine uptake	1	1404.3×	0.004	SLC22A4
positive regulation of intestinal epithelial structure maintenance	1	1404.3×	0.004	SLC22A5
sodium-dependent organic cation transport	1	1404.3×	0.004	SLC22A5
(R)-carnitine transport	1	1404.3×	0.004	SLC22A5
(R)-carnitine transmembrane transport	1	936.2×	0.006	SLC22A5
organelle localization	1	702.2×	0.007	RNF167
response to symbiotic bacterium	1	468.1×	0.008	SLC22A5
carnitine transmembrane transport	1	468.1×	0.008	SLC22A5
carnitine metabolic process	1	401.2×	0.009	SLC22A4
protein K29-linked ubiquitination	1	255.3×	0.013	RNF167
cellular response to leucine starvation	1	234.1×	0.013	RNF167
xenobiotic detoxification by transmembrane export across the plasma membrane	1	187.2×	0.016	SLC22A5
amino acid import across plasma membrane	1	175.5×	0.016	SLC22A4
long-chain fatty-acyl-CoA biosynthetic process	1	140.4×	0.017	ACSL6
xenobiotic transport	1	140.4×	0.017	SLC22A4
response to vitamin D	1	133.8×	0.017	SLC22A4
very long-chain fatty acid metabolic process	1	127.7×	0.017	ACSL6
acyl-CoA metabolic process	1	117.0×	0.018	ACSL6
long-chain fatty acid metabolic process	1	104.0×	0.018	ACSL6
response to tumor necrosis factor	1	104.0×	0.018	SLC22A5
lysosome localization	1	87.8×	0.018	RNF167
response to type II interferon	1	87.8×	0.018	SLC22A5
response to exogenous dsRNA	1	87.8×	0.018	SLC22A4
regulation of Rho protein signal transduction	1	85.1×	0.018	DOCK6
regulation of synaptic transmission, glutamatergic	1	85.1×	0.018	RNF167
liver regeneration	1	85.1×	0.018	SLC22A4

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 7

Druggability breadth: 3 of 7 evidence-associated genes (43%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SLC22A5	0	0
SLC22A4	0	0
ZBTB18	0	0
ACSL6	0	0
DOCK6	0	0
RNF167	0	0
MIR3936HG	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
SLC22A5	97	Functional:79, ADMET:18
SLC22A4	29	Functional:26, ADMET:3
ACSL6	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ACSL6	6.2.1.3	long-chain-fatty-acid-CoA ligase

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	1	SLC22A5
D	Druggable family + AlphaFold only, no drug	2	SLC22A4, ACSL6
E	Difficult family or no structure, no drug	4	ZBTB18, DOCK6, RNF167, MIR3936HG

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
SLC22A5	97	—
SLC22A4	29	—
ZBTB18	0	—
ACSL6	1	—
DOCK6	0	—
RNF167	0	—
MIR3936HG	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE4	1
PHASE2/PHASE3	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01904396	PHASE4	UNKNOWN	Identification of Carnitine-Responsive Cardiomyopathy
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT07201714	EARLY_PHASE1	RECRUITING	Oral Carnitine in Heart Failure Patients
NCT00187733	Not specified	COMPLETED	Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides
NCT02635269	Not specified	UNKNOWN	Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
NCT05910151	Not specified	UNKNOWN	Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LEVOCARNITINE	4	3
CARNITINE	3	2
DEXTROCARNITINE	0	1