Mitochondrial disorders also known as mitochondriopathies
(MCPs) can be either syndromic or nonsyndromic and can present at any age, affect any organ, and have broad symptomatology .
It has also been found effective in some neurodegenerative diseases and mitochondriopathies
, which might involve mitochondrial impairment.[sup] As previously mentioned, ALS could be caused by an energy imbalance, which is a common phenomenon in SOD1 transgenic mice as well as ALS patients.
All patients with genetic leukoencephalopathies and demyelinating disorders such as leukodystrophies, aminoacidurias, and mitochondriopathies
have been excluded.
It should be noted, however, that most metabolic diseases are associated with abnormally increased rather than decreased concentrations of amino acids in blood, e.g., phenylketonuria and hyper-phenylalaninemias (increased F); maple syrup urine disease (increased aIle); lactic acidosis, pyruvate metabolisms disorders and in mitochondriopathies
(increased alanine); or propionic and methylmalonic acidemias (increased G).
Several p.MT-ATP6 TMH4 and 5 amino acids from the CV proton channel are mutated in patients suffering from different mitochondriopathies
(Lopez-Gallardo et al.
There are several types of primary cardiomyopathies: arrhythmogenic right ventricular dysplasia, dilated (congestive) CMP, hypertrophic CMP, specific CMP (metabolic, inflammatory, ischemic, cirrhotic, etc.), and unclassified CMP (fibroelastosis, noncompaction cardiomyopathy (spongiform cardiomyopathy), mitochondriopathies
We could go further and call these conditions mitochondriopathies
, as recent, concurring research has indicated that dysfunctional mitochondria may lie at the center of these and other complex illnesses, such as autism, Alzheimer's, and Parkinson's disease.
Further diagnostic work up for mitochondriopathies
(muscle/ liver/ skin biopsy, enzyme analysis and DNA studies) could not be done.
That is the case with the mitochondriopathies
, diseases that may affect one or more cell types and manifest as syndromic or nonsyndromic disorders.
In other cases, however, such as the taupathies, mitochondriopathies
, CADASIL, X-Linked Adrenoleukodystrophy, etc.
"Ocular muscle dysfunction has been described in primary mitochondriopathies
, and hepatic mitochondrial dysfunction has also been described in fatty liver disease.