GGACT

Summary

GGACT (gamma-glutamylamine cyclotransferase, HGNC:25100) is a protein-coding gene on chromosome 13q32.3, encoding Gamma-glutamylaminecyclotransferase (Q9BVM4). Contributes to degradation of proteins cross-linked by transglutaminases by degrading the cross-link between a lysine and a glutamic acid residue.

The protein encoded by this gene aids in the proteolytic degradation of crosslinked fibrin by breaking down isodipeptide L-gamma-glutamyl-L-epsilon-lysine, a byproduct of fibrin degradation. The reaction catalyzed by the encoded gamma-glutamylaminecyclotransferase produces 5-oxo-L-proline and a free alkylamine. Two transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 87769 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 53 total — 6 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_001195087

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25100
Approved symbol	GGACT
Name	gamma-glutamylamine cyclotransferase
Location	13q32.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000134864
Ensembl biotype	protein_coding
OMIM	613378
Entrez	87769

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 10 protein_coding

ENST00000376250, ENST00000455100, ENST00000464500, ENST00000467518, ENST00000471912, ENST00000492399, ENST00000683975, ENST00000881872, ENST00000881873, ENST00000881874

RefSeq mRNA: 2 — MANE Select: NM_001195087 NM_001195087, NM_033110

CCDS: CCDS45066

Canonical transcript exons

ENST00000683975 — 3 exons

Exon	Start	End
ENSE00001413407	100583825	100583997
ENSE00003916144	100588741	100588789
ENSE00003917236	100530180	100532601

Expression profiles

Bgee: expression breadth ubiquitous, 175 present calls, max score 97.21.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.1888 / max 25.0367, expressed in 1305 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
138053	2.1888	1305

Top tissues by expression

245 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	97.21	gold quality
oocyte	CL:0000023	97.14	gold quality
kidney epithelium	UBERON:0004819	97.12	silver quality
pancreatic ductal cell	CL:0002079	94.86	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.86	gold quality
adult mammalian kidney	UBERON:0000082	81.98	gold quality
kidney	UBERON:0002113	80.63	gold quality
sperm	CL:0000019	79.78	silver quality
adult organism	UBERON:0007023	79.27	gold quality
right lobe of liver	UBERON:0001114	78.38	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.13	gold quality
body of pancreas	UBERON:0001150	77.65	gold quality
cortex of kidney	UBERON:0001225	77.62	gold quality
right adrenal gland	UBERON:0001233	77.31	gold quality
leukocyte	CL:0000738	77.21	gold quality
monocyte	CL:0000576	77.08	gold quality
left adrenal gland	UBERON:0001234	76.67	gold quality
left adrenal gland cortex	UBERON:0035825	76.38	gold quality
right adrenal gland cortex	UBERON:0035827	76.31	gold quality
granulocyte	CL:0000094	76.27	gold quality
renal medulla	UBERON:0000362	75.70	gold quality
tibialis anterior	UBERON:0001385	75.64	silver quality
adrenal tissue	UBERON:0018303	75.24	gold quality
pancreas	UBERON:0001264	75.12	gold quality
adrenal gland	UBERON:0002369	75.07	gold quality
ileal mucosa	UBERON:0000331	75.02	gold quality
liver	UBERON:0002107	74.49	gold quality
adrenal cortex	UBERON:0001235	73.86	gold quality
mucosa of transverse colon	UBERON:0004991	73.55	gold quality
right testis	UBERON:0004534	73.15	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

50 targeting GGACT, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-29A-5P	99.08	68.59	1813
HSA-MIR-10B-3P	99.04	66.98	988
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-4709-3P	98.88	68.04	1594

Literature-anchored findings (GeneRIF, showing 1)

• gamma-glutamylamine cyclotransferase is an enzyme responsible for gamma-glutamyl-epsilon-lysine catabolism (PMID:20110353)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	ggact.2	ENSDARG00000038248
danio_rerio	ggact.3	ENSDARG00000070579
danio_rerio	ggact.1	ENSDARG00000070581
mus_musculus	Ggact	ENSMUSG00000041625
rattus_norvegicus	Ggact	ENSRNOG00000027040
drosophila_melanogaster	CG2811	FBGN0035082
drosophila_melanogaster	Tina-1	FBGN0035083
caenorhabditis_elegans		WBGENE00023489

Protein

Protein identifiers

Gamma-glutamylaminecyclotransferase — Q9BVM4 (reviewed: Q9BVM4)

Alternative names: AIG2-like domain-containing protein 1, Gamma-glutamylamine cyclotransferase

All UniProt accessions (3): Q9BVM4, M0R0M3, M0R217

UniProt curated annotations — full annotation on UniProt →

Function. Contributes to degradation of proteins cross-linked by transglutaminases by degrading the cross-link between a lysine and a glutamic acid residue. Catalyzes the formation of 5-oxo-L-proline from L-gamma-glutamyl-L-epsilon-lysine. Inactive with L-gamma-glutamyl-alpha-amino acid substrates such as L-gamma-glutamyl-L-alpha-cysteine and L-gamma-glutamyl-L-alpha-alanine.

Subunit / interactions. Monomer.

Similarity. Belongs to the gamma-glutamylcyclotransferase family.

RefSeq proteins (2): NP_001182016, NP_149101 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009288	AIG2-like_dom	Domain
IPR013024	GGCT-like	Domain
IPR036568	GGCT-like_sf	Homologous_superfamily
IPR039126	GGACT	Family

Pfam: PF06094

Enzyme classification (BRENDA):

• EC 4.3.2.8 — gamma-glutamylamine cyclotransferase (BRENDA: 4 organisms, 23 substrates, 4 inhibitors, 15 Km, 12 kcat entries)
• EC 4.3.2.9 — gamma-glutamylcyclotransferase (BRENDA: 13 organisms, 119 substrates, 12 inhibitors, 54 Km, 28 kcat entries)

Substrate kinetics (BRENDA)

57 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
5-L-GLUTAMYL-L-ALPHA-AMINOBUTYRATE	6–12	4
GAMMA-GLUTAMYL-L-ALANINE	2–8	4
5-L-GLUTAMYL-L-ALANINE	2–4.48	3
GLUTATHIONE	1.7–4.96	3
5-L-GLUTAMYL-L-GLUTAMINE	10–18	2
GAMMA-L-GLU-EPSILON-N-BENZYLOXYCARBONYL-L-LYS	0.28–0.32	2
EPSILON-(GAMMA-L-GLUTAMYL)-L-LYSINE	0.23	1
GAMMA-GLUTAMYLDANSYLCADAVERINE	0.011	1
L-GAMMA-GLUTAMYL-(2S)-2-METHYLBUTYLAMINE	0.38	1
L-GAMMA-GLUTAMYL-2-METHYLBUTYLAMINE	0.38	1
L-GAMMA-GLUTAMYL-BETA-ALANINE	0.91	1
L-GAMMA-GLUTAMYL-N-BUTYLAMINE	0.25	1
L-GAMMA-GLUTAMYL-N-PROPYLAMINE	0.32	1
L-GAMMA-GLUTAMYLBENZYLAMINE	0.56	1
L-GAMMA-GLUTAMYLCYCLOPENTYLAMINE	0.084	1

Catalyzed reactions (Rhea), 1 shown:

• epsilon-(gamma-L-glutamyl)-L-lysine = 5-oxo-L-proline + L-lysine (RHEA:16961)

UniProt features (20 total): strand 8, helix 4, turn 2, chain 1, region of interest 1, compositionally biased region 1, active site 1, binding site 1, mutagenesis site 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
3JUD	X-RAY DIFFRACTION	0.98
3JUB	X-RAY DIFFRACTION	1.2
3JUC	X-RAY DIFFRACTION	1.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BVM4-F1	92.36	0.86

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 82 (proton acceptor)

Ligand- & substrate-binding residues (1): 7–10

Mutagenesis-validated functional residues (1):

Position	Phenotype
82	loss of activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 77 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_MODIFIED_AMINO_ACID_CATABOLIC_PROCESS, WANG_LMO4_TARGETS_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_MODIFIED_AMINO_ACID_METABOLIC_PROCESS, chr13q32, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, FORTSCHEGGER_PHF8_TARGETS_DN, GOMF_CARBON_NITROGEN_LYASE_ACTIVITY, GOMF_AMIDINE_LYASE_ACTIVITY, MTOR_UP.V1_UP, CRX_NRL_DN.V1_DN, ZNF146_TARGET_GENES, ZNF202_TARGET_GENES, ZNF589_TARGET_GENES

GO Biological Process (1): modified amino acid catabolic process (GO:0042219)

GO Molecular Function (3): gamma-glutamylaminecyclotransferase activity (GO:0061929), protein binding (GO:0005515), lyase activity (GO:0016829)

GO Cellular Component (2): cytosol (GO:0005829), extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
modified amino acid metabolic process	1
catabolic process	1
amidine-lyase activity	1
binding	1
catalytic activity	1
cytoplasm	1
cellular anatomical structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

194 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GGACT	FGA	P02671	768
GGACT	GGCT	O75223	413
GGACT	ASCL3	Q9NQ33	387
GGACT	ATP1B3	P54709	371
GGACT	FBXO2	Q9UK22	370
GGACT	CHAC2	Q8WUX2	352
GGACT	RBKS	Q9H477	350
GGACT	SAMM50	Q9Y512	333
GGACT	OPLAH	O14841	323
GGACT	DDO	Q99489	312
GGACT	SPATA20	Q8TB22	304
GGACT	CTH	P32929	302
GGACT	GGTLC3	B5MD39	300
GGACT	GLYAT	Q6IB77	271
GGACT	OR8U3	Q8NH85	263

IntAct

23 interactions, top by confidence:

A	B	Type	Score
ARPC5	ARPC3	psi-mi:“MI:0914”(association)	0.730
PLAAT5	GGACT	psi-mi:“MI:0915”(physical association)	0.720
GGACT	PLAAT5	psi-mi:“MI:0915”(physical association)	0.720
ZBED1	GGACT	psi-mi:“MI:0915”(physical association)	0.560
LDB2	GGACT	psi-mi:“MI:0915”(physical association)	0.560
CUTA	PRKAG1	psi-mi:“MI:0914”(association)	0.530
GGACT	RPL23A	psi-mi:“MI:0915”(physical association)	0.400
ORMDL1	GGACT	psi-mi:“MI:0915”(physical association)	0.400
COL20A1	MEIS1	psi-mi:“MI:0914”(association)	0.350
COL20A1	TSC2	psi-mi:“MI:0914”(association)	0.350
CDX1	IPO7	psi-mi:“MI:0914”(association)	0.350
COPS7B	CPSF4	psi-mi:“MI:0914”(association)	0.350
GGACT	PLAAT5	psi-mi:“MI:0915”(physical association)	0.000
GGACT	ZBED1	psi-mi:“MI:0915”(physical association)	0.000
GGACT	LDB2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): HRASLS5 (Two-hybrid), GGACT (Affinity Capture-MS), HRASLS5 (Two-hybrid), LDB2 (Two-hybrid), ZBED1 (Two-hybrid), GGACT (Affinity Capture-MS), RPL23A (Affinity Capture-MS), GGACT (Affinity Capture-MS), GGACT (Affinity Capture-MS), GGACT (Affinity Capture-MS), GGACT (Affinity Capture-MS), GGACT (Affinity Capture-MS)

ESM2 similar proteins: B3STU3, O02785, O75808, P19526, P97812, Q0VFX9, Q10979, Q14623, Q29043, Q3TX08, Q4KM86, Q561R2, Q5RA07, Q5ZL13, Q60806, Q6PAT0, Q7YR35, Q866C5, Q866C7, Q866C9, Q866D2, Q866D6, Q866D9, Q866E1, Q866E4, Q866E6, Q866E7, Q866E8, Q866F0, Q866F1, Q8CAK1, Q8IYL2, Q8NF37, Q8NI29, Q8R3J5, Q91YP1, Q923B0, Q96EF6, Q96EN8, Q96EY9

Diamond homologs: A0JMM9, A3KNL6, Q0VFX9, Q4KM86, Q58909, Q66I06, Q66KX0, Q923B0, Q9BVM4, Q9KP33, Q9M8T3, Q9W0Y1, Q9W0Y2, P39759, Q4H4F0, D2TN58, P0AE48, P0AE49, P0AE50, P0AE51

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

53 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	1
Uncertain significance	39
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
1454834	NC_000013.10:g.(?101167671)(101182701_?)del	Pathogenic
1459911	NC_000013.10:g.(?101179909)(101182420_?)del	Pathogenic
2422797	NC_000013.10:g.(?100741375)(101182420_?)del	Pathogenic
4279340	GRCh37/hg19 13q32.3(chr13:101175886-101187305)x1	Pathogenic
657918	NC_000013.11:g.(?100527665)(100530447_?)del	Pathogenic
831847	NC_000013.11:g.(?100527655)(100530186_?)del	Pathogenic
1527793	GRCh37/hg19 13q32.3(chr13:101167705-101265053)	Likely pathogenic

SpliceAI

994 predictions. Top by Δscore:

Variant	Effect	Δscore
13:100532597:CAGAG:C	acceptor_gain	1.0000
13:100530088:A:AG	acceptor_gain	0.9900
13:100530089:A:G	acceptor_gain	0.9900
13:100532598:AGAG:A	acceptor_gain	0.9900
13:100532599:GAG:G	acceptor_gain	0.9900
13:100532600:AG:A	acceptor_gain	0.9900
13:100532600:AGCT:A	acceptor_loss	0.9900
13:100532602:C:CC	acceptor_gain	0.9900
13:100532602:C:T	acceptor_loss	0.9900
13:100532603:T:C	acceptor_loss	0.9900
13:100556061:T:A	donor_gain	0.9900
13:100583819:TCTCA:T	donor_loss	0.9900
13:100583820:CTCA:C	donor_loss	0.9900
13:100583821:TCACC:T	donor_loss	0.9900
13:100583822:CACCT:C	donor_loss	0.9900
13:100583823:A:AT	donor_loss	0.9900
13:100583824:C:G	donor_loss	0.9900
13:100530082:T:G	acceptor_gain	0.9800
13:100533613:AGGT:A	donor_gain	0.9800
13:100556062:C:A	donor_gain	0.9800
13:100529620:G:T	donor_gain	0.9700
13:100530081:A:AG	acceptor_gain	0.9700
13:100530093:TCAA:T	acceptor_loss	0.9700
13:100530094:CAA:C	acceptor_loss	0.9700
13:100530097:G:GT	acceptor_loss	0.9700
13:100529606:G:GT	donor_gain	0.9600
13:100529619:G:GT	donor_gain	0.9600
13:100530078:T:A	acceptor_gain	0.9600
13:100532605:C:CT	acceptor_gain	0.9600
13:100529582:G:GT	donor_gain	0.9500

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000016467 (13:100560918 T>A,C), RS1000063881 (13:100589299 C>G), RS1000083056 (13:100562183 T>C), RS1000090632 (13:100583227 G>A,T), RS1000121770 (13:100582812 C>T), RS1000201526 (13:100533328 G>A), RS1000222943 (13:100544701 T>G), RS1000227277 (13:100530969 C>G), RS1000258175 (13:100551526 C>A,G,T), RS1000350699 (13:100532610 A>G), RS1000372683 (13:100589064 G>A), RS1000380704 (13:100573333 A>G), RS1000383276 (13:100532879 G>A), RS1000399158 (13:100569520 G>A), RS1000428931 (13:100569210 G>A,T)

Disease associations

OMIM: gene MIM:613378 | disease phenotypes: MIM:606054

GenCC curated gene-disease

Mondo (1): propionic acidemia (MONDO:0011628)

Orphanet (1): Propionic acidemia (Orphanet:35)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007327_107	Smoking status (ever vs never smokers)	2.000000e-09
GCST010002_194	Refractive error	2.000000e-76

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004318	smoking behavior

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D056693	Propionic Acidemia	C16.320.565.100.823; C18.452.648.100.823

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	3
Arsenic	affects methylation, decreases expression, increases abundance	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	decreases expression, increases abundance	1
hydroxyhydroquinone	increases expression	1
sodium arsenite	decreases expression	1
ferrous chloride	decreases expression	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
jinfukang	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases expression	1
Catechin	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Phthalic Acids	decreases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Tunicamycin	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

19 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02426775	PHASE3	COMPLETED	Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia
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
NCT04732429	PHASE2	TERMINATED	Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia
NCT00645879	PHASE1	COMPLETED	Anaplerotic Therapy in Propionic Acidemia
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
NCT04159103	PHASE1/PHASE2	RECRUITING	Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia
NCT05130437	PHASE1/PHASE2	RECRUITING	A Study to Assess the Long-term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 Study
NCT02890342	Not specified	RECRUITING	Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
NCT03159026	Not specified	COMPLETED	Review of Charts From Amish/Mennonite Variant PA Patients
NCT03484767	Not specified	COMPLETED	The MaP Study: Mapping the Patient Journey in MMA and PA
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
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
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT05769621	Not specified	RECRUITING	A Retrospective Study to Characterize Participants With Propionic Acidemia
NCT06664840	Not specified	NOT_YET_RECRUITING	MyRareDiet A Novel Diet Tracking Tool