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| Term ID: | 9544 |
| Name: | Pyruvate Carboxylase Deficiency Disease |
| Definition: | An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9) |
| Alternative IDs: | OMIM:266150 |
| ParentIDs: | MESH:D015323|MESH:D020739|MESH:D028361 |
| TreeNumbers: | C10.228.140.163.100.725 |C16.320.565.189.725 |C16.320.565.202.810.666 |C18.452.132.100.725 |C18.452.648.189.725 |C18.452.648.202.810.666 |C18.452.660.705 |
| Synonyms: | Ataxia with Lactic Acidosis 2 |Ataxia with Lactic Acidosis II |Ataxia with Lactic Acidosis, Type II |Deficiency Disease, Pyruvate Carboxylase |Deficiency, Pyruvate Carboxylase |Lactic Acidosis with Ataxia, Type II |LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUV |
| Slim Mappings: | Genetic disease (inborn)|Metabolic disease|Nervous system disease |
| Reference: |
MedGen: D015324
MeSH: D015324
OMIM: 266150;
Genes: | Could not execute query 3
SELECT DISTINCT t2.disease_id, t2.disease_title, t.id AS HPO_ID1, t.acc as HPO_ID, t.name as HPO_Name
, t5.frequency_modifier , o.comment AS Onset_name
FROM hpo.external_object_disease AS t2, hpo.annotation AS t5
LEFT JOIN hpo.term AS t ON t.id = t5.term_id
LEFT JOIN hpo.annotation_onset_modifier AS o ON o.annotation_id =t5.annotation_id
WHERE t2.disease_id = '266150' AND t2.db_name='OMIM'
AND t5.external_object_disease_id = t2.external_object_id
ORDER BY HPO_Name like '%Auto%' DESC, HPO_Name like '%linked%' DESC, HPO_Name like '%onset%' DESC, HPO_Name, disease_title, t.name; |
Pyruvate Carboxylase Deficiency Disease 
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