MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
General Information (adopted from Orphanet):
Synonyms, Signs: |
MPYCD |
Number of Symptoms | 31 |
OrphanetNr: | |
OMIM Id: |
614741
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
Congenital onset [Omim] |
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001992) | Organic aciduria | 28 / 7739 | ||||
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(HPO:0000286) | Epicanthus | rare [HPO:skoehler] | 371 / 7739 | |||
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(HPO:0000219) | Thin upper lip vermilion | rare [HPO:skoehler] | 112 / 7739 | |||
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(HPO:0000343) | Long philtrum | rare [HPO:skoehler] | 262 / 7739 | |||
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(HPO:0000253) | Progressive microcephaly | rare [HPO:skoehler] | 37 / 7739 | |||
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(HPO:0001583) | Rotary nystagmus | rare [HPO:skoehler] | 7 / 7739 | |||
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(HPO:0001298) | Encephalopathy | rare [HPO:skoehler] | 72 / 7739 | |||
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(HPO:0001250) | Seizures | rare [HPO:skoehler] | 1245 / 7739 | |||
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(HPO:0003477) | Peripheral axonal neuropathy | 62 / 7739 | ||||
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(HPO:0001327) | Photomyoclonic seizures | 125 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0009830) | Peripheral neuropathy | rare [HPO:skoehler] | 206 / 7739 | |||
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(HPO:0007178) | Motor polyneuropathy | 31 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
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(HPO:0001943) | Hypoglycemia | 131 / 7739 | ||||
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(HPO:0002151) | Increased serum lactate | 92 / 7739 | ||||
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(HPO:0003128) | Lactic acidosis | 116 / 7739 | ||||
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(HPO:0003542) | Increased serum pyruvate | 18 / 7739 | ||||
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(HPO:0002098) | Respiratory distress | rare [HPO:skoehler] | 75 / 7739 | |||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(OMIM) | Poor visual contact | 2 / 7739 | ||||
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(OMIM) | Poor overall growth | 2 / 7739 | ||||
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(OMIM) | Impaired oxidation of pyruvate | 1 / 7739 | ||||
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(OMIM) | Normal lactate:pyruvate ratio | 1 / 7739 | ||||
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(OMIM) | Inverted widely spaced nipples (in 1 patient) | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) | Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012). |
Clinical Description OMIM |
Brivet et al. (2003) reported a girl, born of related Algerian parents, with a severe metabolic disorder resulting in death at age 19 months. At birth, she had respiratory distress, hepatomegaly, lactic acidosis, and transient hypoglycemia. Laboratory studies ... |
Molecular genetics OMIM |
In 4 patients from 3 unrelated consanguineous families with mitochondrial pyruvate carrier deficiency, Bricker et al. (2012) identified 2 different homozygous mutations in the BRP44L gene (614738.0001 and 614738.0002). The mutations were identified by homozygosity mapping followed by ... |