MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: MPYCD
Number of Symptoms 31
OrphanetNr:
OMIM Id: 614741
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

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: Sort by abundance 

1
(HPO:0001992) Organic aciduria 28 / 7739
2
(HPO:0000286) Epicanthus rare [HPO:skoehler] 371 / 7739
3
(HPO:0000219) Thin upper lip vermilion rare [HPO:skoehler] 112 / 7739
4
(HPO:0000343) Long philtrum rare [HPO:skoehler] 262 / 7739
5
(HPO:0000253) Progressive microcephaly rare [HPO:skoehler] 37 / 7739
6
(HPO:0001583) Rotary nystagmus rare [HPO:skoehler] 7 / 7739
7
(HPO:0001298) Encephalopathy rare [HPO:skoehler] 72 / 7739
8
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
9
(HPO:0003477) Peripheral axonal neuropathy 62 / 7739
10
(HPO:0001327) Photomyoclonic seizures 125 / 7739
11
(HPO:0001263) Global developmental delay 853 / 7739
12
(HPO:0009830) Peripheral neuropathy rare [HPO:skoehler] 206 / 7739
13
(HPO:0007178) Motor polyneuropathy 31 / 7739
14
(HPO:0002240) Hepatomegaly 467 / 7739
15
(HPO:0001943) Hypoglycemia 131 / 7739
16
(HPO:0002151) Increased serum lactate 92 / 7739
17
(HPO:0003128) Lactic acidosis 116 / 7739
18
(HPO:0003542) Increased serum pyruvate 18 / 7739
19
(HPO:0002098) Respiratory distress rare [HPO:skoehler] 75 / 7739
20
(HPO:0010547) Muscle flaccidity 466 / 7739
21
(HPO:0001324) Muscle weakness 859 / 7739
22
(HPO:0001252) Muscular hypotonia 990 / 7739
23
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
24
(HPO:0003577) Congenital onset 133 / 7739
25
(HPO:0003828) Variable expressivity 130 / 7739
26
(OMIM) Poor visual contact 2 / 7739
27
(OMIM) Poor overall growth 2 / 7739
28
(OMIM) Impaired oxidation of pyruvate 1 / 7739
29
(OMIM) Normal lactate:pyruvate ratio 1 / 7739
30
(OMIM) Inverted widely spaced nipples (in 1 patient) 1 / 7739
31
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...