Transient neonatal multiple acyl-CoA dehydrogenase deficiency
Synonyms: Transient neonatal MAD deficiency · Transient neonatal MADD · Transient neonatal glutaric acidemia type 2 · Transient neonatal glutaric aciduria type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Transient neonatal multiple acyl-CoA dehydrogenase deficiency | Transient neonatal MAD deficiency · Transient neonatal MADD · Transient neonatal glutaric acidemia type 2 · Transient neonatal glutaric aciduria type 2 |
| fr | Déficit néonatal transitoire multiple en acyl-CoA déshydrogénases | Acidurie glutarique type 2 néonatale transitoire · Acidémie glutarique type 2 néonatale transitoire · Déficit néonatal transitoire en MAD · MADD néonatal transitoire |
| de | Acyl-CoA-Dehydrogenase-Mangel, multipler neonataler transienter | MADD, transient neonatal · Transiente neonatale Glutarazidurie Typ 2 · Transiente neonatale Glutarazidämie Typ 2 · Transienter neonataler MAD-Mangel |
| es | Deficiencia múltiple de acil-CoA deshidrogenasa neonatal transitoria | Acidemia glutárica neonatal transitoria tipo 2 · Aciduria glutárica neonatal transitoria tipo 2 · Deficiencia neonatal transitoria de MAD · MADD neonatal transitorio |
| it | Deficit multiplo neonatale transitorio di acil-CoA deidrogenasi | Acidemia glutarica neonatale transitoria, tipo 2 · Aciduria glutarica neonatale transitoria, tipo 2 · Deficit neonatale transitorio di MAD · MADD neonatale transitorio |
| nl | Voorbijgaande neonatale meervoudige acyl-CoA-dehydrogenasedeficiëntie | Voorbijgaande neonatale MAD-deficiëntie · Voorbijgaande neonatale MADD · Voorbijgaande neonatale glutaaracidemie type 2 · Voorbijgaande neonatale glutaaracidurie type 2 |
| pt | Défice transitório neonatal múltipla da acil-CoA desidrogenase | |
| pl | Przejściowy noworodkowy złożony Niedobór dehydrogenazy acylo-CoA | Przejściowa noworodkowa acyduria glutarowa typu 2 · Przejściowa noworodkowa kwasica glutarowa typu 2 · Przejściowy noworodkowy MADD · Przejściowy noworodkowy Niedobór MAD |
| cs | Deficit dehydrogenace mnohočetných acyl-CoA, tranzientní novorozenecký typ | Tranzientní neonatální MAD deficit · Tranzientní neonatální MADD · Tranzientní neonatální glutarová acidemie, typ 2 · Tranzientní neonatální glutarová acidurie, typ 2 |
| uk | Транзиторний неонатальний множинний дефіцит ацил-КоА-дегідрогенази | Транзиторна неонатальна глутарова ацидемія 2 типу · Транзиторна неонатальна глутарова ацидурія 2 типу · Транзиторний неонатальний дефіцит MAD · Транзиторне неонатальне MADD у новонароджених |
| zh | 新生儿暂时性多酰辅酶A脱氢酶缺乏症 | 新生儿暂时性戊二酸尿症2型 |
| tr | Geçici yenidoğan çoklu açil-CoA dehidrojenaz eksikliği | Geçici yenidoğan MADD · Geçici yenidoğan MAD eksikliği · Geçici yenidoğan glutarik asidemi tip 2 · Geçici yenidoğan glutarik asidüri tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P72.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | attributed | validated |
| MONDO | 0018014 | E | validated | |
| UMLS | C4509950 | 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 (1):
- ORPHA:309120Acyl-CoA dehydrogenase deficiency
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 17689999[PMID]_21089064[PMID]_21089064[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329942
- This record as JSON: /data/d/329942.json