ORPHA:3008
Pyruvate carboxylase deficiency
Synonyms: Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II · Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency · Leigh syndrome due to PC deficiency · Leigh syndrome due to pyruvate carboxylase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pyruvate carboxylase deficiency | Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II · Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency · Leigh syndrome due to PC deficiency · Leigh syndrome due to pyruvate carboxylase deficiency |
| fr | Déficit en pyruvate carboxylase | Ataxie avec acidose lactique type 2 · Ataxie avec acidose lactique type II · Encéphalopathie nécrosante subaiguë de Leigh par déficit en pyruvate carboxylase · Syndrome de Leigh par déficit en PC · Syndrome de Leigh par déficit en pyruvate carboxylase |
| de | Pyruvat-Carboxylase-Mangel | Ataxie mit Laktatazidose Typ 2 · Leigh-Syndrom durch Pyruvat-Carboxylase-Mangel · Nekrotisierende Enzephalopathie durch Pyruvat-Carboxylase-Mangel |
| es | Deficiencia de piruvato carboxilasa | Ataxia con acidosis láctica tipo 2 · Ataxia con acidosis láctica tipo II · Encefalopatía necrosante de Leigh por deficiencia de piruvato carboxilasa · Síndrome de Leigh por deficiencia de PC · Síndrome de Leigh por deficiencia de piruvato carboxilasa |
| it | Deficit di piruvato carbossilasi | Atassia con acidosi lattica, tipo 2 · Atassia con acidosi lattica, tipo II · Encefalopatia necrotizzante di Leigh da deficit di piruvato carbossilasi · Sindrome di Leigh da deficit di PC · Sindrome di Leigh da deficit di piruvato carbossilasi |
| nl | Deficiëntie van pyruvaatcarboxylase | Ataxie met lactaatacidose type II · Ataxie met melkzuuracidose type 2 · Ataxie met melkzuuracidose type II · Necrotiserende encefalopathie van Leigh door deficiëntie van pyruvaatcarboxylase · Syndroom van Leigh door PC-deficiëntie · Syndroom van Leigh door deficiëntie van pyruvaatcarboxylase · Ataxie met lactaatacidose type 2 |
| pt | Deficiência de piruvato carboxilase | |
| pl | Niedobór karboksylazy pirogronianowej | Ataksja z kwasicą mleczanową typu 2 · Ataksja z kwasicą mleczanową typu II · Martwicza encefalopatia Leigha z powodu niedoboru karboksylazy pirogronianowej · Zespół Leigha z powodu niedoboru karboksylazy pirogronianowej · Zespół Leigha z powodu niedoboru PC |
| cs | Deficit pyruvátkarboxylázy | Ataxie s laktátovou acidózou, typ 2 · Ataxie s laktátovou acidózou, typ II · Leighova nekrotizující encefalopatie způsobená deficitem pyruvátkarboxylázy · Leighův syndrom způsobený deficitem PC · Leighův syndrom způsobený deficitem pyruvátkarboxylázy |
| uk | Дефіцит піруваткарбоксилази | Атаксія з молочнокислим ацидозом типу 2 · Атаксія з молочнокислим ацидозом II типу · Некротизуюча енцефалопатія Лі внаслідок дефіциту піруваткарбоксилази · Синдром Лі внаслідок дефіциту PC · Синдром Лі через дефіцит піруваткарбоксилази |
| zh | 丙酮酸羧化酶缺乏 | 丙酮酸羧化酶缺乏所致Leigh坏死性脑病 |
| tr | Piruvat karboksilaz eksikliği | Tip 2 laktik asidozlu ataksi · Tip II laktik asidozlu ataksi · PC eksikliğine bağlı Leigh sendromu · Piruvat karboksilaz eksikliğine bağlı Leigh sendromu · Piruvat karboksilaz eksikliğine bağlı Leigh nekrotizan ensefalopatisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 266150 | E | validated | |
| ICD-10 | E74.4 | NTBT | inclusion | validated |
| ICD-11 | 5C53.03 | E | specific | validated |
| MONDO | 0009949 | E | validated | |
| MeSH | D015324 | E | validated | |
| UMLS | C0034341 | E | validated | |
| GARD | 7512 | E | validated | |
| MedDRA | 10077944 | 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:79177Gluconeogenesis disorder
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
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Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PC | ORPHA:353308Pyruvate carboxylase deficiency, infantile type | Disease-causing germline mutation(s) in | Assessed | HGNC:8636 | ENSG00000173599 | 608786 | 11q13.2 | pyruvate carboxylase | 20301764[PMID] |
| PC | ORPHA:353314Pyruvate carboxylase deficiency, severe neonatal type | Disease-causing germline mutation(s) in | Assessed | HGNC:8636 | ENSG00000173599 | 608786 | 11q13.2 | pyruvate carboxylase | 20301764[PMID] |
| PC | ORPHA:353320Pyruvate carboxylase deficiency, benign type | Disease-causing germline mutation(s) in | Assessed | HGNC:8636 | ENSG00000173599 | 608786 | 11q13.2 | pyruvate carboxylase | 20301764[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Europe | Value and class | Validated | ISBN:79130356[OTHER] |
| 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
70 annotations · validated 2021-01-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0032653 | Elevated lactate:pyruvate ratio | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003128 | Lactic acidosis | |
| Frequent (79-30%) | ||
| HP:0500231 | Abnormal CSF pyruvate family amino acid concentration | |
| HP:0500198 | Decreased CSF glutamine concentration | |
| HP:0012706 | Elevated brain choline level by MRS | |
| HP:0012707 | Elevated brain lactate level by MRS | |
| HP:0011966 | Elevated plasma citrulline | |
| HP:0001508 | Failure to thrive | |
| HP:0001510 | Growth delay | |
| HP:0003348 | Hyperalaninemia | |
| HP:0001987 | Hyperammonemia | |
| HP:0500149 | Hyperglutamatemia | |
| HP:0410175 | Hyperketonemia | |
| HP:0002161 | Hyperlysinemia | |
| HP:0008358 | Hyperprolinemia | |
| HP:0500181 | Hypertaurinemia | |
| HP:0500147 | Hypoglutaminemia | |
| HP:0500233 | Increased CSF alanine concentration | |
| HP:0500246 | Increased CSF citrulline concentration | |
| HP:0500200 | Increased CSF glutamate concentration | |
| HP:0002490 | Increased CSF lactate | |
| HP:0012644 | Increased caudate lactate level | |
| HP:0003542 | Increased circulating pyruvate concentration | |
| HP:0003648 | Lacticaciduria | |
| HP:0001942 | Metabolic acidosis | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0025160 | Abnormal temper tantrums | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002039 | Anorexia | |
| HP:0000741 | Apathy | |
| HP:0001251 | Ataxia | |
| HP:0006999 | Basal ganglia gliosis | |
| HP:0003429 | CNS hypomyelination | |
| HP:0012698 | Cerebellar gliosis | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0000722 | Compulsive behaviors | |
| HP:0001944 | Dehydration | |
| HP:0025336 | Delayed ability to sit | |
| HP:0012448 | Delayed myelination | |
| HP:0100660 | Dyskinesia | |
| HP:0001332 | Dystonia | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0011169 | Generalized clonic seizure | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002240 | Hepatomegaly | |
| HP:0003074 | Hyperglycemia | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0003228 | Hypernatremia | |
| HP:0001943 | Hypoglycemia | |
| HP:0001252 | Hypotonia | |
| HP:0012469 | Infantile spasms | |
| HP:0001249 | Intellectual disability | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0000639 | Nystagmus | |
| HP:0007109 | Periventricular cysts | |
| HP:0002465 | Poor speech | |
| HP:0000817 | Reduced eye contact | |
| HP:0002416 | Subependymal cysts | |
| HP:0002789 | Tachypnea | |
| HP:0030051 | Tip-toe gait | |
| HP:0001337 | Tremor | |
| HP:0002119 | Ventriculomegaly | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001259 | Coma | |
| HP:0100023 | Recurrent hand flapping | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30870574[PMID]_20301764[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3008
- This record as JSON: /data/d/3008.json