Mitochondrial diseases are a group of genetic disorders that affect the mitochondria, the cellular structures responsible for producing energy in the form of ATP (adenosine triphosphate). These diseases are caused by mutations in mitochondrial DNA or in nuclear genes that encode proteins related to mitochondrial function. Because mitochondria are…
Category archives: Metabolism
Coenzyme Q10 (Decorenone).
https://www.frontiersin.org/articles/10.3389/fnins.2023.1188839/full https://metabolicas.sjdhospitalbarcelona.org/ecm/defectos-sintesis-coenzima-q10/info/como-diagnostica-deficiencia-coenzima-q10 https://www.aeped.es/comite-medicamentos/pediamecum/coenzima-q10-ubidecarenona Indicaciones de tratamiento en neurología pediátrica:
Metabolic diseases with dysmorphia.
In Vademecum Metabolicum there are different guides depending on the clinical scenario, including metabolic diseases that present with dysmorphia:
Diseases peroxisomal.
When do you suspect an error congenital metabolism?
Inborn errors of metabolism are diseases usually of autosomal recessive inheritance (although there are some of X-linked inheritance), and in some cases they are susceptible to curative treatment, which is why it is important to identify them early.
Coarse facies.
There are many metabolic diseases characterized by coarse facies. Most of them are storage diseases and present a progressive phenotype that becomes more evident with age, making early diagnosis difficult. The best strategy is to implement a targeted screening, using GAGs in a...
Metabolic diseases are linked to X.
Most inborn errors of metabolism are autosomal recessive diseases. However, there are some exceptions. For a complete list of all X-linked diseases, you can consult OMIM.
Rare neurological diseases diagnosable by simple means.
Cholesterol, HDL, LDL, triglycerides: Tangier disease. Abetalipoproteinemia. Smith-Lemli-Opitz, Cerebrotendinous Xanthomatosis and other disorders of cholesterol synthesis. Alpha-fetoprotein: Ataxia-telangiectasia, Ataxia with oculomotor apraxia type 1 and type 2. Uric acid: Lesch-Nyhan. MCV: X-linked alpha-thalassemia mental retardation syndrome. Ferritin. Neuroferritinopathies. TSH, FT4, FT3. Allan-Herndon-Dudley. Benign hereditary chorea. Peripheral blood smear: Acanthocytes: Neuroacanthocytosis. …
Continue reading «Enfermedades raras neurológicas diagnosticables por medios sencillos.»
CDG roadmap.
https://pubmed.ncbi.nlm.nih.gov/32512173/
Treatable causes protocol.
In our geographical context, all newborns are offered the heel prick test or neonatal screening for congenital diseases, which currently in the Valencian Community includes 10 diseases. The clinical guideline for the diagnosis of global developmental delay and intellectual disability of the American Academy of Neurology …