KEGG DISEASE: Recurrent metabolic crises with variable encephalomyopathic features

KEGG

DISEASE: Recurrent metabolic crises with variable encephalomyopathic features

Entry

H02701                      Disease

Name

Recurrent metabolic crises with variable encephalomyopathic features

Subgroup

Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN)
Recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN)

Description

Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is a novel form of mitochondrial myopathy. It has been reported that mutations in SLC25A42 cause this disease. SLC25A42 gene encodes an inner mitochondrial membrane protein that imports Coenzyme A into the mitochondrial matrix. Recently, it has been reported that mutations in TANGO2 cause recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN).

Category

Inherited metabolic disorder, Mitochondrial disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C73  Mitochondrial myopathies
     H02701  Recurrent metabolic crises with variable encephalomyopathic features

Gene

(MECREN) SLC25A42 [HSA:284439] [KO:K15085]
(MECRCN) TANGO2 [HSA:128989] [KO:K28098]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Almannai M, Alasmari A, Alqasmi A, Faqeih E, Al Mutairi F, Alotaibi M, Samman MM, Eyaid W, Aljadhai YI, Shamseldin HE, Craigen W, Alkuraya FS

Title

Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.

Journal

Clin Genet 93:1097-1102 (2018)
DOI:10.1111/cge.13210

Reference

PMID:26541337 (MECREN)

Authors

Shamseldin HE, Smith LL, Kentab A, Alkhalidi H, Summers B, Alsedairy H, Xiong Y, Gupta VA, Alkuraya FS

Title

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.

Journal

Hum Genet 135:21-30 (2016)
DOI:10.1007/s00439-015-1608-8

Reference

PMID:26805782 (MECRCN)

Authors

Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Kupper C, Muhlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB

Title

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

Journal

Am J Hum Genet 98:358-62 (2016)
DOI:10.1016/j.ajhg.2015.12.009

LinkDB

» Japanese version

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