ORPHA:35
Propionic acidemia
Synonyms: Ketotic hyperglycinemia · Propionic aciduria · Propionyl-CoA carboxylase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Propionic acidemia | Ketotic hyperglycinemia · Propionic aciduria · Propionyl-CoA carboxylase deficiency |
| fr | Acidémie propionique | Acidurie propionique · Déficit en propionyl-CoA carboxylase · Glycinémie cétosique |
| de | Propionazidämie | Glycinämie, ketotische · Propionazidurie · Propionyl-CoA-Carboxylase-Mangel |
| es | Acidemia propiónica | Aciduria propiónica · Deficiencia de propionil-CoA carboxilasa · Hiperglicinemia cetósica |
| it | Acidemia propionica | Aciduria propionica · Deficit di propionil-CoA carbossilasi · Iperglicinemia chetosica |
| nl | Propionacidemie | Deficiëntie van propionyl-CoA-carboxylase · Ketotische hyperglycinemie · Propionacidurie · Propionzuuracidemie · Propionzuuracidurie |
| pt | Acidemia propiónica | Deficiência de propionil-CoA carboxilase · Glicinemia cetótica |
| pl | Kwasica propionowa | Acyduria propionowa · Hiperglicynemia ketonowa · Niedobór karboksylazy propionylo-CoA |
| cs | Propionová acidémie | Ketotická hyperglycinémie · Propionová acidurie · Deficit propionyl-CoA karboxylázy |
| uk | Пропіонова ацидемія | Кетозна гіперглікемія · Пропіонова ацидурія · Дефіцит пропіоніл-КоА-карбоксилази |
| zh | 丙酸血症 | 丙酰辅酶A羧化酶缺乏 |
| tr | Propiyonik asidemi | Propiyonik asidüri · Ketotik hiperglisinemi · Propionyl-CoA karboksilaz eksikliği |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606054 | E | validated | |
| ICD-10 | E71.1 | NTBT | inclusion | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0011628 | E | validated | |
| MeSH | D056693 | E | validated | |
| UMLS | C0268579 | E | validated | |
| GARD | 467 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79163Classic organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PCCA | Disease-causing germline mutation(s) in | Assessed | HGNC:8653 | ENSG00000175198 | 232000 | 13q32.3 | propionyl-CoA carboxylase subunit alpha | 22593918[PMID] |
| PCCB | Disease-causing germline mutation(s) in | Assessed | HGNC:8654 | ENSG00000114054 | 232050 | 3q22.3 | propionyl-CoA carboxylase subunit beta | 22593918[PMID] |
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Prevalence and incidence
9 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | >1 / 1000 | 100 / 100 000 | Canada | Value and class | Validated | 10820128[PMID]_23509210[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.5 / 100 000 | Worldwide | Value and class | Validated | 22593918[PMID]_14586648[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | 23509210[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 / 100 000 | Italy | Value and class | Validated | 11953730[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | Germany | Value and class | Validated | 23509210[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 33 / 100 000 | Saudi Arabia | Value and class | Validated | 23509210[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.7 / 100 000 | Japan | Value and class | Validated | 12189489[PMID]_23509210[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.23 / 100 000 | Korea, Republic of | Value and class | Validated | 24101962[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0278 / 100 000 | China | Value and class | Validated | 34103049[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.
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HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002019 | Constipation | |
| HP:0001987 | Hyperammonemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0001992 | Organic aciduria | |
| HP:0003353 | Propionyl-CoA carboxylase deficiency | |
| Frequent (79-30%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0011675 | Arrhythmia | |
| HP:0001263 | Global developmental delay | |
| HP:0002240 | Hepatomegaly | |
| HP:0001249 | Intellectual disability | |
| Occasional (29-5%) | ||
| HP:0001638 | Cardiomyopathy | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35
- This record as JSON: /data/d/35.json