ORPHA:353314
Pyruvate carboxylase deficiency, severe neonatal type
Synonyms: Pyruvate carboxylase deficiency type B
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyruvate carboxylase deficiency, severe neonatal type | Pyruvate carboxylase deficiency type B |
| fr | Déficit en pyruvate carboxylase, type néonatal sévère | Déficit en pyruvate carboxylase type B |
| de | Pyruvat-Carboxylase-Mangel, schwerer neonataler Typ | Pyruvat-Carboxylase-Mangel Typ B |
| es | Deficiencia de piruvato carboxilasa tipo neonatal grave | Deficiencia de piruvato carboxilasa tipo B |
| it | Deficit di piruvato carbossilasi, tipo neonatale grave | Deficit di piruvato carbossilasi, tipo B |
| nl | Pyruvaatcarboxylasedeficiëntie, ernstig neonataal type | Pyruvaatcarboxylasedeficiëntie type B |
| pt | Défice de piruvato carboxilase, tipo neonatal grave | |
| pl | Niedobór karboksylazy pirogronianowej, ciężki typ noworodkowy | Niedobór karboksylazy pirogronianowej typu B |
| cs | Deficit pyruvátkarboxylasy, těžký novorozenecký typ | Deficit pyruvátkarboxylasy, typ B |
| uk | Дефіцит піруваткарбоксилази, тяжкий неонатальний тип | Дефіцит піруваткарбоксилази типу В |
| zh | 丙酮酸羧化酶缺陷，严重新生儿型 | 丙酮酸羧化酶缺乏症B型 |
| tr | Piruvat karboksilaz eksikliği, ağır yenidoğan tip | Piruvat karboksilaz eksikliği tip B |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266150 | NTBT | validated | |
| ICD-10 | E74.4 | NTBT | attributed | validated |
| ICD-11 | 5C53.03 | NTBT | attributed | validated |
| MONDO | 0018142 | E | validated | |
| UMLS | C5679929 | 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:3008Pyruvate carboxylase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PC | Disease-causing germline mutation(s) in | Assessed | HGNC:8636 | ENSG00000173599 | 608786 | 11q13.2 | pyruvate carboxylase | 20301764[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/353314
- This record as JSON: /data/d/353314.json