MEGDEL syndrome
Synonyms: 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MEGDEL syndrome | 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome · 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome |
| fr | Syndrome MEGDEL | Syndrome Leigh-like-acidurie 3-méthylglutaconique-surdité-encéphalopathie |
| de | MEGDEL-Syndrom | |
| es | Síndrome MEGDEL | Síndrome de aciduria 3-metilglutacónica con hipoacusia-encefalopatía-similar a Leigh · Síndrome de aciduria 3-metilglutacónica con sordera-encefalopatía-similar a Leigh |
| it | Sindrome MEGDEL | Aciduria 3-metilglutaconica con sordità - encefalopatia - sindrome Leigh-simile |
| nl | MEGDEL-syndroom | 3-methylglutaconacidurie met doofheid - encefalopathie - Leigh-achtig syndroom · 3-methylglutaconacidurie met gehoorverlies - encefalopathie - Leigh-achtig syndroom |
| pt | Síndrome MEGDEL | |
| pl | Zespół MEGDEL | Acyduria 3-metyloglutakonowa z głuchotą - encefalopatia -zespół podobny do zespołu Leigha |
| cs | MEGDEL syndrom | 3-methylglutakonová acidurie s hluchotou, encefalopatii a syndromem podobným Leighovu |
| uk | Синдром MEGDEL | 3-метилглутаконов аацидурія з глухотою - енцефалопатією та Лі-подібним синдромом · 3-метилглутаконова ацидурія з втратою слуху-енцефалопатією та синдромом Лі |
| zh | MEGDEL综合征 | 3-甲基戊烯二酸尿症伴听力丧失-脑病-Leigh样综合征 |
| tr | MEGDEL sendromu | Sağırlık-ensefalopati-Leigh benzeri sendromlu ile seyreden 3-metilglutakonik asidüri · İşitme kaybı-ensefalopati-Leigh benzeri sendromu ile seyreden 3-metilglutakonik asidüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614739 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | attributed | validated |
| MONDO | 0013875 | E | validated | |
| UMLS | C4040739 | E | validated | |
| GARD | 12963 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:2899023-methylglutaconic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:352306Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:309136Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SERAC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21061 | ENSG00000122335 | 614725 | 6q25.3 | serine active site containing 1 | 22683713[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 67 cases | Worldwide | Case(s) | Validated | 29205472[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29205472[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
26 annotations · validated 2025-12-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003535 | 3-Methylglutaconic aciduria | |
| HP:0001332 | Dystonia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0003128 | Lactic acidosis | |
| HP:0002191 | Progressive spasticity | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0003344 | 3-Methylglutaric aciduria | |
| HP:0040140 | Degeneration of the striatum | |
| HP:0002376 | Developmental regression | |
| HP:0001298 | Encephalopathy | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001399 | Hepatic failure | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0001344 | Absent speech | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002307 | Drooling | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001987 | Hyperammonemia | |
| HP:0003146 | Hypocholesterolemia | |
| HP:0000648 | Optic atrophy | |
| HP:0002650 | Scoliosis | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 40821445[PMID]_37996139[PMID]_32684373[PMID]_24741715[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352328
- This record as JSON: /data/d/352328.json