MECREN
MCID: MTB009
MIFTS: 21

Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression (MECREN)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

MalaCards integrated aliases for Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression:

Name: Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 57 72 29 6 17
Mecren 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype, even within families
onset in the first decade
acute metabolic decompensation associated with fever, infection, or stress


HPO:

31
metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

OMIM® : 57 Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. There is significant phenotypic heterogeneity, even among patients with the same mutation (summary by Almannai et al., 2018). (618416) (Updated 20-May-2021)

MalaCards based summary : Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression, is also known as mecren. An important gene associated with Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression is SLC25A42 (Solute Carrier Family 25 Member 42). Affiliated tissues include brain, and related phenotypes are global developmental delay and delayed speech and language development

UniProtKB/Swiss-Prot : 72 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression: An autosomal recessive disease characterized by muscle weakness, developmental delay, lactic acidosis, and encephalopathy. The severity of the clinical manifestations is highly variable even within affected individuals of the same family, ranging from asymptomatic lactic acidosis to severe developmental regression, epilepsy, intellectual disability, metabolic crisis, and multiorgan involvement.

Related Diseases for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Symptoms & Phenotypes for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Human phenotypes related to Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 delayed speech and language development 31 very rare (1%) HP:0000750
3 hyperammonemia 31 very rare (1%) HP:0001987
4 rhabdomyolysis 31 very rare (1%) HP:0003201
5 seizure 31 very rare (1%) HP:0001250
6 ataxia 31 HP:0001251
7 developmental regression 31 HP:0002376
8 elevated serum creatine kinase 31 HP:0003236
9 increased serum lactate 31 HP:0002151
10 dystonia 31 HP:0001332
11 lactic acidosis 31 HP:0003128
12 choreoathetosis 31 HP:0001266
13 generalized hypotonia 31 HP:0001290
14 weakness of facial musculature 31 HP:0030319
15 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
ataxia
dystonia
choreoathetosis
seizures (in some patients)
delayed walking
more
Metabolic Features:
lactic acidosis

Head And Neck Face:
facial muscle weakness

Laboratory Abnormalities:
increased serum lactate
increased serum creatine kinase
hyperammonemia (in some patients)

Muscle Soft Tissue:
hypotonia
rhabdomyolysis, episodic (rare)

Cardiovascular Heart:
poor left ventricular function (in some patients)

Clinical features from OMIM®:

618416 (Updated 20-May-2021)

Drugs & Therapeutics for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Search Clinical Trials , NIH Clinical Center for Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression

Genetic Tests for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Genetic tests related to Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression:

# Genetic test Affiliating Genes
1 Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression 29 SLC25A42

Anatomical Context for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

MalaCards organs/tissues related to Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression:

40
Brain

Publications for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Articles related to Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression:

# Title Authors PMID Year
1
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy. 6 57
29923093 2019
2
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. 57 6
29327420 2018
3
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. 57 6
26541337 2016
4
Autozygome and high throughput confirmation of disease genes candidacy. 6
30237576 2019

Variations for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

ClinVar genetic disease variations for Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A42 NM_178526.5(SLC25A42):c.380+2T>A SNV Pathogenic 627557 rs1247424432 GRCh37: 19:19216538-19216538
GRCh38: 19:19105729-19105729
2 SLC25A42 NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) SNV Pathogenic/Likely pathogenic 219191 rs864321624 GRCh37: 19:19221599-19221599
GRCh38: 19:19110790-19110790

UniProtKB/Swiss-Prot genetic disease variations for Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression:

72
# Symbol AA change Variation ID SNP ID
1 SLC25A42 p.Asn291Asp VAR_082152 rs864321624

Expression for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Search GEO for disease gene expression data for Metabolic Crises, Recurrent, with Variable Encephalomyopathic Features and Neurologic Regression.

Pathways for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

GO Terms for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

Sources for Metabolic Crises, Recurrent, with Variable Encephalomyopathic...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....