ORPHA:353308
Pyruvate carboxylase deficiency, infantile type
Synonyms: Pyruvate carboxylase deficiency type A
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyruvate carboxylase deficiency, infantile type | Pyruvate carboxylase deficiency type A |
| fr | Déficit en pyruvate carboxylase, type infantile | Déficit en pyruvate carboxylase type A |
| de | Pyruvat-Carboxylase-Mangel, infantile Form | Pyruvat-Carboxylase-Mangel Typ A |
| es | Deficiencia de piruvato carboxilasa tipo infantil | Deficiencia de piruvato carboxilasa tipo A |
| it | Deficit di piruvato carbossilasi, forma infantile | Deficit di piruvato carbossilasi, tipo A |
| nl | Pyruvaatcarboxylasedeficiëntie, infantiel type | Pyruvaatcarboxylasedeficiëntie type A |
| pt | Défice de piruvato carboxilase, tipo infantil | |
| pl | Niedobór karboksylazy pirogronianowej, postać dziecięca | Niedobór karboksylazy pirogronianowej typu A |
| cs | Deficit pyruvátkarboxylasy, kojenecká forma | Deficit pyruvátkarboxylasy, typ A |
| uk | Дефіцит піруваткарбоксилази, дитячий тип | Дефіцит піруваткарбоксилази типу А |
| zh | 丙酮酸羧化酶缺陷，婴儿型 | 丙酮酸羧化酶缺乏症A型 |
| tr | Piruvat karboksilaz eksikliği, infantil tip | Piruvat karboksilaz eksikliği tip A |
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 | 0018141 | E | validated | |
| UMLS | C5679928 | 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 | Not yet 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.
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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/353308
- This record as JSON: /data/d/353308.json