MPYCD
MCID: MTC079
MIFTS: 29

Mitochondrial Pyruvate Carrier Deficiency (MPYCD)

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

Aliases & Classifications for Mitochondrial Pyruvate Carrier Deficiency

MalaCards integrated aliases for Mitochondrial Pyruvate Carrier Deficiency:

Name: Mitochondrial Pyruvate Carrier Deficiency 57 12 58 72 36 29 13 6 15 39 70
Mpycd 57 72

Characteristics:

Orphanet epidemiological data:

58
mitochondrial pyruvate carrier deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mitochondrial pyruvate carrier deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Mitochondrial Pyruvate Carrier Deficiency

KEGG : 36 Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development. Patients present with severe lactic acidosis, normal lactate/pyruvate ratios and normal pyruvate dehydrogenase activity. Mitochondrial pyruvate carrier mediates the proton symport of pyruvate across the inner mitochondrial membrane, and plays a key role in glycolysis and gluconeogenesis.

MalaCards based summary : Mitochondrial Pyruvate Carrier Deficiency, also known as mpycd, is related to critical illness polyneuropathy and rocky mountain spotted fever. An important gene associated with Mitochondrial Pyruvate Carrier Deficiency is MPC1 (Mitochondrial Pyruvate Carrier 1), and among its related pathways/superpathways are Glucose / Energy Metabolism and Carbon metabolism. Related phenotypes are epicanthus and thin upper lip vermilion

Disease Ontology : 12 A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has material basis in homozygous mutation in the BRP44L gene on chromosome 6q27.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Mitochondrial Pyruvate Carrier Deficiency

Diseases related to Mitochondrial Pyruvate Carrier Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 critical illness polyneuropathy 9.7 GPT CS
2 rocky mountain spotted fever 9.6 GPT CS
3 mitochondrial dna depletion syndrome 5 9.6 GPT CS
4 epidemic typhus 9.5 GPT CS

Symptoms & Phenotypes for Mitochondrial Pyruvate Carrier Deficiency

Human phenotypes related to Mitochondrial Pyruvate Carrier Deficiency:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 epicanthus 31 occasional (7.5%) HP:0000286
2 thin upper lip vermilion 31 occasional (7.5%) HP:0000219
3 long philtrum 31 occasional (7.5%) HP:0000343
4 peripheral neuropathy 31 occasional (7.5%) HP:0009830
5 encephalopathy 31 occasional (7.5%) HP:0001298
6 respiratory distress 31 occasional (7.5%) HP:0002098
7 progressive microcephaly 31 occasional (7.5%) HP:0000253
8 rotary nystagmus 31 occasional (7.5%) HP:0001583
9 seizure 31 occasional (7.5%) HP:0001250
10 global developmental delay 31 HP:0001263
11 hepatomegaly 31 HP:0002240
12 hypoglycemia 31 HP:0001943
13 increased serum lactate 31 HP:0002151
14 lactic acidosis 31 HP:0003128
15 increased serum pyruvate 31 HP:0003542
16 organic aciduria 31 HP:0001992
17 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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:
seizures (in some patients)
delayed psychomotor development
encephalopathy (in 1 patient)

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

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

Growth Other:
poor overall growth

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 (Updated 05-Apr-2021)

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

Articles related to Mitochondrial Pyruvate Carrier Deficiency:

# Title Authors PMID Year
1
A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. 57 6
22628558 2012
2
Impaired mitochondrial pyruvate importation in a patient and a fetus at risk. 6 57
12649063 2003
3
Metabolic Characterization and Consequences of Mitochondrial Pyruvate Carrier Deficiency in Drosophila melanogaster. 61
32899962 2020

Variations for Mitochondrial Pyruvate Carrier Deficiency

ClinVar genetic disease variations for Mitochondrial Pyruvate Carrier Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPC1 NM_016098.4(MPC1):c.289C>T (p.Arg97Trp) SNV Pathogenic 35561 rs387907237 GRCh37: 6:166779478-166779478
GRCh38: 6:166365990-166365990
2 MPC1 NM_016098.4(MPC1):c.236T>A (p.Leu79His) SNV Pathogenic 35562 rs387907238 GRCh37: 6:166779531-166779531
GRCh38: 6:166366043-166366043
3 MPC1 NM_016098.4(MPC1):c.214A>G (p.Lys72Glu) SNV Likely pathogenic 488547 rs1554264977 GRCh37: 6:166779553-166779553
GRCh38: 6:166366065-166366065
4 MPC1 NM_016098.4(MPC1):c.220C>A (p.Gln74Lys) SNV Uncertain significance 1029576 GRCh37: 6:166779547-166779547
GRCh38: 6:166366059-166366059

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

72
# Symbol AA change Variation ID SNP ID
1 MPC1 p.Leu79His VAR_068099 rs387907238
2 MPC1 p.Arg97Trp VAR_068100 rs387907237

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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