This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.com]

[…] panel or analyzed in the present method. [google.com]

[…] in ~80 % of cases) [ 14 ]; MIDD (m.3243A>G present in ~2–7 % of patients) [ 25 ]; LS [ 14 ]; Hypertrophic cardiomyopathy (m.3243A>G present in ~10 % of Finnish patients) [ 25 ]; Sensorineural hearing loss, focal segmental glomerulosclerosis, cardiac [basicmedicalkey.com]

[…] with PDSS2 and COQ6 mutations have also presented with proteinuric kidney disease. [dovepress.com]

In most cases, mtDNA mutations are heteroplasmic as both normal and mutant mtDNA are present. [em-consulte.com]

• Weakness

  Symptoms may include muscle weakness, hypotonia, exercise intolerance, developmental delay, lactic acidosis, encephalopathy, hepatopathy, or myopathy. [basicmedicalkey.com]

  Patients with Barth syndrome have cardiomyopathy, neutropenia, skeletal muscle weakness, growth retardation, and intellectual disability. Presentation and severity are variable. [invitae.com]

  This disease is characterized by encephalomyopathy with myoclonus, ataxia, hearing loss, muscle weakness and generalized seizures. [em-consulte.com]

  Signs and symptoms of VLCAD deficiency can include hypoglycemia, lethargy, and muscle weakness. [google.com]

• Asymptomatic

  The severity of disease caused by these mutations depends on mutation load: a low mutation load is asymptomatic; an intermediate mutation load causes NARP; and a high mutation load causes MILS [ 66, 67 ]. [basicmedicalkey.com]

  We must not forget that mitochondrial diseases can affect any organ and the presence of symptoms in some of them may be delayed or asymptomatic, so once we have a diagnosis we must request additional studies to determine overall disease burden: heart [revistanefrologia.com]

• Respiratory Insufficiency

  Features include neutropenia accompanied by neurological abnormalities such as hyperekplexia, tonal abnormalities, dysphagia, respiratory insufficiency, microcephaly and seizures. [invitae.com]

  insufficiency, selected from the group consisting of ABCA3 and SFTPB. [google.com]

• Failure to Thrive

  Acute infantile liver failure due to mutations in the TRMU gene. [mitomap.org]

• Myopathy

  […] and cardiomyopathy [ 27 ] m.3291 T>C MT – TL1 MELAS, myopathy, deafness plus cognitive impairment [ 27 ] m.3302A>G MT – TL1 Mitochondrial myopathy [ 27 ] m.3303C>T MT – TL1 Maternal myopathy and cardiomyopathy [ 27 ] m.3460G>A MT – ND1 LHON (together [basicmedicalkey.com]

  encephalomyopathy, lactic acidosis, stroke-like symptoms (MELAS syndrome) myoclonic epilepsy with ragged red fibers (MERRF) myoneurogenic gastrointestinal encephalopathy (MNGIE) cardiomyopathy and myopathy chronic progressive external ophtalmoplegia [humpath.com]

  Early-Onset, With Fatal Cardiomyopathy Myopathy, Myofibrillar, 1 Myopathy, X-Linked, With Postural Muscle Atrophy Nathalie Syndrome Neurologic Waardenburg-Shah Syndrome Noonan Syndrome Oculodentodigital Dysplasia Phocomelia-Ectrodactyly-Deafness-Sinus [familydiagnosis.com]

  Mitochondrial Encephalocardio-Myopathy with Neonatal Hypotonia and TMEM70 Mutation, Pediatric Neurology Briefs, 2010, 39-40, DOI: 10.15844/pedneurbriefs-24-5-10 [paperity.org]

  TK2 mutation presenting as indolent myopathy. Neurology 2013 ; 80 : 504 – 506. 43. Blakely, E, He, L, Gardner, JL, et al. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. [doi.org]

• Muscle Hypotonia

  A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. [mitomap.org]

  Signs and symptoms of LCHAD deficiency can include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver problems, retina abnormalities, muscle pain and peripheral neuropathy. [google.com]

  SUCLA2 patients present with psychomotor retardation, muscle hypotonia, hearing impairment and seizures [ 89 ], whereas those with SUCLG1 mutations have encephalomyopathy and methylmalonic aciduria [ 90 ]. [em-consulte.com]

• Psychomotor Retardation

  Disease description A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels [uniprot.org]

  Patients with a TMEM70 defect have a variable phenotype which may include, hypertrophic cardiomyopathy, myopathy, dysmorphism, cataracts, psychomotor retardation, lactic acidosis and hyperammonemia. [invitae.com]

  The presentation of patients with isolated ATP synthase deficiency caused by mutations in nuclear genes is remarkably homogeneous with neonatal onset, lactic acidosis, hypertrophic cardiomyopathy, psychomotor retardation, and, in most cases, 3-methyl-glutaconic [basicmedicalkey.com]

  SUCLA2 patients present with psychomotor retardation, muscle hypotonia, hearing impairment and seizures [ 89 ], whereas those with SUCLG1 mutations have encephalomyopathy and methylmalonic aciduria [ 90 ]. [em-consulte.com]

• Hyperammonemia

  Hospital in Prague, Ke Karlovu 2, 12808, Prague 2, Czech Republic., ,, ,, ,, ,, ,, ,, ,, ,, ,, ,, ,, ,, , Source MeSH Acidosis, Lactic Adolescent Adult Cardiomyopathies Child Child, Preschool Disease Management Europe Female Heterozygote Homozygote Humans Hyperammonemia [wwww.unboundmedicine.com]

  Patients with a TMEM70 defect have a variable phenotype which may include, hypertrophic cardiomyopathy, myopathy, dysmorphism, cataracts, psychomotor retardation, lactic acidosis and hyperammonemia. [invitae.com]

This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.com]

Many avenues are being explored including replacement of mtDNA, gene therapies of the nuclear encoded OXPHOS assembly factors, as well as small molecule drug treatments. [mitosciences.com]

Specific treatments do not exist for the majority of mitochondrial diseases, but it is likely that the intense research that currently exists for these diseases will eventually produce effective treatment possibilities. [revistanefrologia.com]

In this multicentre retrospective study we characterise the natural history of the disease, treatment and outcome in 48 patients with mutations in TMEM70. Eleven centers from eight European countries, Turkey and Israel participated. [wwww.unboundmedicine.com]

Inborn metabolic diseases: diagnosis and treatment. 6th ed. Heidelberg: Springer; 2016. Chapter 18, Branched-chain organic acidurias/acidaemias; p. 289–293. [invitae.com]

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases. Eur Heart J 2015 ; 36 : 2886 – 2893. 16. Honzik, T, Tesarova, M, Mayr, JA, et al. [doi.org]

According to the data so far, having a percentage of mutant mtDNA 30% or > 80% is predictive of a reasonable chance of a good or bad prognosis, respectively [ 103 ]. Any results in between these limits would be of even less certain predictive value. [em-consulte.com]

Mitochondrial and enzyme defects predominate as disease-related etiologies. [circres.ahajournals.org]

General pathology > Genetic and developmental anomalies > Genetic metabolic diseases > mitochondrial diseases Etiologies A. mitochondrial genome anomalies whole mitochondrial proteome anomalies tRNA gene anomalies rRNA gene anomalies deletions of the [humpath.com]

ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. Eur J Endocrinol. 2010; 162:1021-25. [hospitals.clalit.co.il]

In some cases, a clinically defined mitochondrial syndrome has been associated with multiple distinct genetic etiologies. Alternatively, the same genetic lesion has been observed in association with variable clinical presentations. [dovepress.com]

The majority of the etiology of idiopathic HCM is due to the mutations in the genes encoding sarcomeric proteins. [google.com]

Recent epidemiological studies show that mitochondrial disorders have a minimal prevalence of 1:5 000. [els.net]

Indeed, according to microscopic findings two pathophysiologic mechanisms for FSGS have been hypothesised in this disease, which are still to be elucidated. [revistanefrologia.com]

The identification of the disease-causing genes is not only important for genetic counselling and prenatal diagnosis, but also for a greater understanding of the pathophysiology of these disorders. [em-consulte.com]

I should use it to see if I can reduce my levels of this protein to prevent losing my mind. Now where is that whiskey bottle! DU.H. et al. [mitosciences.com]

Source: NIDDK (NIH): niddk.nih.gov/ health-information/ diabetes/ overview/ preventing-problems/ nerve-damage-diabetic-neuropathies Source: NHS Choices UK : nhs.uk/ conditions/ peripheral-neuropathy/ complications/ Source: NHS Choices UK : nhs.uk/ conditions [familydiagnosis.com]

Early diagnosis of this form of renal involvement is particularly important to prevent patient exposure to ineffective and often toxic immunosuppressive therapies. [revistanefrologia.com]

Early diagnosis may enable medical or nutritional intervention thus preventing or ameliorating a disease predisposing to fetal or infant death. [google.com]

These defects impair the energetic function of the Fo proton channel and thus prevent ATP synthesis, although the rate of ATP hydrolysis and the concentration of the enzyme complex remain largely unchanged. [docslide.net]