MCID: MTC079
MIFTS: 18

Mitochondrial Pyruvate Carrier Deficiency

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Pyruvate Carrier Deficiency

MalaCards integrated aliases for Mitochondrial Pyruvate Carrier Deficiency:

Name: Mitochondrial Pyruvate Carrier Deficiency 57 59 75 29 13 6 40 73
Mpycd 57 75

Characteristics:

Orphanet epidemiological data:

59
mitochondrial pyruvate carrier deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth
four patients from 3 unrelated families have been reported (last curated july 2012)


HPO:

32
mitochondrial pyruvate carrier deficiency:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Pyruvate Carrier Deficiency

UniProtKB/Swiss-Prot : 75 Mitochondrial pyruvate carrier deficiency: An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy.

MalaCards based summary : Mitochondrial Pyruvate Carrier Deficiency, is also known as mpycd. An important gene associated with Mitochondrial Pyruvate Carrier Deficiency is MPC1 (Mitochondrial Pyruvate Carrier 1). Related phenotypes are seizures and global developmental delay

OMIM : 57 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). (614741)

Related Diseases for Mitochondrial Pyruvate Carrier Deficiency

Symptoms & Phenotypes for Mitochondrial Pyruvate Carrier Deficiency

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
hepatomegaly

Laboratory Abnormalities:
increased serum lactate
increased serum pyruvate
organic aciduria
normal lactate:pyruvate ratio
impaired oxidation of pyruvate

Neurologic Central Nervous System:
delayed psychomotor development
seizures (in some patients)
encephalopathy (in 1 patient)

Growth Other:
poor overall growth

Head And Neck Face:
long philtrum (in 1 patient)

Head And Neck Mouth:
thin upper lip (in 1 patient)

Chest Breasts:
inverted widely spaced nipples (in 1 patient)

Metabolic Features:
hypoglycemia
lactic acidosis

Muscle Soft Tissue:
hypotonia

Neurologic Peripheral Nervous System:
peripheral neuropathy (in some patients)

Head And Neck Head:
microcephaly, progressive (in 1 patient)

Head And Neck Eyes:
epicanthal folds (in 1 patient)
rotary nystagmus (in 1 patient)
poor visual contact (in 1 patient)

Respiratory:
respiratory distress (in 1 patient)


Clinical features from OMIM:

614741

Human phenotypes related to Mitochondrial Pyruvate Carrier Deficiency:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 global developmental delay 32 HP:0001263
3 hepatomegaly 32 HP:0002240
4 hypoglycemia 32 HP:0001943
5 long philtrum 32 occasional (7.5%) HP:0000343
6 peripheral neuropathy 32 occasional (7.5%) HP:0009830
7 respiratory distress 32 occasional (7.5%) HP:0002098
8 epicanthus 32 occasional (7.5%) HP:0000286
9 increased serum lactate 32 HP:0002151
10 lactic acidosis 32 HP:0003128
11 thin upper lip vermilion 32 occasional (7.5%) HP:0000219
12 encephalopathy 32 occasional (7.5%) HP:0001298
13 increased serum pyruvate 32 HP:0003542
14 generalized hypotonia 32 HP:0001290
15 progressive microcephaly 32 occasional (7.5%) HP:0000253
16 organic aciduria 32 HP:0001992
17 rotary nystagmus 32 occasional (7.5%) HP:0001583

Drugs & Therapeutics for Mitochondrial Pyruvate Carrier Deficiency

Search Clinical Trials , NIH Clinical Center for Mitochondrial Pyruvate Carrier Deficiency

Genetic Tests for Mitochondrial Pyruvate Carrier Deficiency

Genetic tests related to Mitochondrial Pyruvate Carrier Deficiency:

# Genetic test Affiliating Genes
1 Mitochondrial Pyruvate Carrier Deficiency 29 MPC1

Anatomical Context for Mitochondrial Pyruvate Carrier Deficiency

Publications for Mitochondrial Pyruvate Carrier Deficiency

Variations for Mitochondrial Pyruvate Carrier Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Pyruvate Carrier Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 MPC1 p.Leu79His VAR_068099 rs387907238
2 MPC1 p.Arg97Trp VAR_068100 rs387907237

ClinVar genetic disease variations for Mitochondrial Pyruvate Carrier Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MPC1 NM_016098.3(MPC1): c.289C> T (p.Arg97Trp) single nucleotide variant Pathogenic rs387907237 GRCh37 Chromosome 6, 166779478: 166779478
2 MPC1 NM_016098.3(MPC1): c.289C> T (p.Arg97Trp) single nucleotide variant Pathogenic rs387907237 GRCh38 Chromosome 6, 166365990: 166365990
3 MPC1 NM_016098.3(MPC1): c.236T> A (p.Leu79His) single nucleotide variant Pathogenic rs387907238 GRCh37 Chromosome 6, 166779531: 166779531
4 MPC1 NM_016098.3(MPC1): c.236T> A (p.Leu79His) single nucleotide variant Pathogenic rs387907238 GRCh38 Chromosome 6, 166366043: 166366043
5 MPC1 NM_016098.3(MPC1): c.214A> G (p.Lys72Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 166779553: 166779553
6 MPC1 NM_016098.3(MPC1): c.214A> G (p.Lys72Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 166366065: 166366065

Expression for Mitochondrial Pyruvate Carrier Deficiency

Search GEO for disease gene expression data for Mitochondrial Pyruvate Carrier Deficiency.

Pathways for Mitochondrial Pyruvate Carrier Deficiency

GO Terms for Mitochondrial Pyruvate Carrier Deficiency

Sources for Mitochondrial Pyruvate Carrier Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....