Isovaleric acidemia
Synonyms: Isovaleric acid CoA dehydrogenase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isovaleric acidemia | Isovaleric acid CoA dehydrogenase deficiency |
| fr | Acidémie isovalérique | Déficit en Isovaléryl-CoA déshydrogénase |
| de | Isovalerianazidämie | Isovaleryl-CoA-Dehydrogenase-Mangel |
| es | Acidemia isovalérica | Deficiencia de ácido isovalérico CoA deshidrogenasa |
| it | Acidemia isovalerica | Deficit di CoA deidrogenasi dell'acido isovalerico |
| nl | Isovaleriaanacidemie | Isovaleriaanacidurie · Isovaleryl-CoA-dehydrogenasedeficiëntie |
| pt | Acidemia isovalérica | Deficiência de ácido isovalérico-CoA desidrogenase |
| pl | Kwasica izowalerianowa | Niedobór dehydrogenazy kwasy izowalerianowego CoA |
| cs | Isovalerová acidémie | Deficit isovaleryl-CoA-dehydrogenázy |
| uk | Ізовалеріанова ацидемія | Дефіцит КоА-дегідрогенази ізовалеріанової кислоти |
| zh | 异戊酸血症 | 异戊酸辅酶A脱氢酶缺乏症 |
| tr | İzovalerik asidemi | İzovalerik asit KoA dehidrojenaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243500 | E | validated | |
| ICD-10 | E71.1 | NTBT | inclusion | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009475 | E | validated | |
| MeSH | C538167 | E | validated | |
| UMLS | C0268575 | E | validated | |
| GARD | 465 | E | validated | |
| MedDRA | 10083852 | 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 (2):
- ORPHA:79163Classic organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IVD | Disease-causing germline mutation(s) in | Assessed | HGNC:6186 | ENSG00000128928 | 607036 | 15q15.1 | isovaleryl-CoA dehydrogenase |
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.55 / 100 000 | Germany | Value and class | Not yet validated | 12777559[PMID]_21335445[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.28 / 100 000 | Australia | Value and class | Validated | 12788994[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.63 / 100 000 | Italy | Value and class | Validated | 18956250[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.53 / 100 000 | United States | Value and class | Not yet validated | 16601872[PMID]_16735252[PMID]_ 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
29 annotations · validated 2024-05-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001942 | Metabolic acidosis | |
| Frequent (79-30%) | ||
| HP:0033111 | 3-hydroxyisovaleric aciduria | |
| HP:0033447 | Elevated circulating isovalerylcarnitine concentration | |
| HP:0031962 | Elevated serum anion gap | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001987 | Hyperammonemia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002919 | Ketonuria | |
| HP:0003128 | Lactic acidosis | |
| HP:0001254 | Lethargy | |
| HP:0001250 | Seizure | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0001735 | Acute pancreatitis | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0001259 | Coma | |
| HP:0001289 | Confusion | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001310 | Dysmetria | |
| HP:0002901 | Hypocalcemia | |
| HP:0002045 | Hypothermia | |
| HP:0001270 | Motor delay | |
| HP:0001337 | Tremor | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0002453 | Abnormal globus pallidus morphology | |
| HP:0011675 | Arrhythmia | |
| HP:0001994 | Renal Fanconi syndrome | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 16602101[PMID]_38484105[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33
- This record as JSON: /data/d/33.json