Metabopathies, a disease also known as congenital metabolism disorders.

Metabopathies are alterations of the internal environment produced by the increase or deficiency of certain proteins, which cause poor function of some organs of the human body (lung, liver, brain, heart).

Likewise, metabolism is considered the process by which the body uses food and energy.

Congenital metabolic diseases are a group of rare genetic disorders in which the body is not able to transform food properly. These are considered rare or minority diseases.

Inherited metabolic diseases are due to the mutation of a gene that encodes a protein that is involved in any of the thousands of chemical reactions in the cell.

Metabolic Diseases are commonly inherited in the family, they are the result of a defective gene that manifests in an enzyme deficiency.

Metabolism is divided into two conjugated processes: catabolism and anabolism. The organ that regulates the body’s metabolism is the Thyroid.

The detection of metabolic diseases is carried out through a blood analysis study, known as the “heel test”, which is performed on newborn boys and girls in the first three days of life and allows the detection of certain diseases before they present. Your symptoms.

The heel test is a blood test that aims to diagnose congenital metabolic diseases, in order to initiate early treatment, to reduce morbidity and possible complications that may arise.

The procedure is very simple, the medical staff takes five drops of blood from the heel of the baby’s foot, on a special filter paper, in order to detect data that indicate the presence of some of the most common congenital diseases present from birth, such as such as: Anophthalmia and microphthalmia, Anotia and microtia, Esophageal atresia, Craniosynostosis, Heart defects, Neural tube defects, Limb reduction defects, Gastroschisis.

Likewise, such as:

  • Adrenal Hyperplasia (Intellectual disability and early death)
  • Hypothyroidism (Intellectual disability)
  • Galactosemia (Intellectual disability and early death)
  • Phenylketonuria (Intellectual disability)
  • Cystic fibrosis.
  • Galactosemia.
  • Biotinidase deficiency.

To diagnose the metabolic condition, your doctor will measure your blood pressure and perform blood tests to measure blood sugar, cholesterol, and triglyceride levels.

Symptoms of metabolic syndrome:

  • Central obesity, that is, excess fat in the abdominal area.
  • Difficulty digesting a type of sugar called glucose.
  • Elevated levels of low-density lipoproteins (LDL or bad cholesterol) and triglycerides in the blood.

Functions of Metabolism:

  • Breathing.
  • Blood circulation.
  • Corporal temperature regulation.
  • Muscle contraction.

Types of metabolism:

  • Carbohydrate type metabolism. It is considered slow and is characterized by having slow digestion with a tendency to constipation, feeling tired and fatigued.
  • Protein type metabolism.
  • Mixed type metabolism.

Factors that can affect metabolism are:

Metabolic rate and caloric requirements vary from person to person depending on factors such as:

  • The genetic,
  • Sex.
  • Age.
  • Body composition.
  • The amount of exercise you do.
  • Health status and certain medical conditions can also influence metabolism.

Main most common metabolic diseases:

  • Amyloidosis.
  • Celiac Disease.
  • Gaucher disease.
  • Wilson’s disease.
  • Phenylketonuria.
  • Hemochromatosis.
  • Porphyria.
  • Rickets.

Recommendations to obtain a more efficient metabolism:

  • You should consume the following foods:
  • Eggs, rich in protein.
  • Brazil nut: main source of selenium.
  • Spinach: very rich in magnesium and iron, essential for metabolism.
  • Chili peppers: contain capsaicin that burns calories.
  • Black tea and coffee: caffeine and antioxidants.
  • Lentils: connection with the microbiota.
  • What worsens metabolism: Overeating and leading a sedentary lifestyle. And they can accelerate age-related metabolic changes.

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https://www.farmaceuticos.com/pam/temas/formacion-continuada/metabolopatias-y-su-tratamiento/#:~:text=Se%20definen%20como%20metabolopat%C3%ADas%20aquellas,de%20alg%C3%BAn%20proceso%20fisiol%C3%B3gico%20normal.

https://www.castillalamancha.es/gobierno/sanidad/estructura/dgsspc/actuaciones/detecci%C3%B3n-precoz-de-metabolopat%C3%ADas-ciudadanos#:~:text=Es%20un%20estudio%20anal%C3%ADtico%20de,de%20que%20presenten%20sus%20s%C3%ADntomas.

https://www.quimica.es/enciclopedia/Metabolismo.html#:~:text=El%20metabolismo%20se%20divide%20en,retenida%20en%20sus%20enlaces%20qu%C3%ADmicos.

https://www.nhlbi.nih.gov/es/salud/sindrome-metabolico/diagnostico#:~:text=Para%20diagnosticar%20s%C3%ADndrome%20metab%C3%B3lico%2C%20el%20m%C3%A9dico%20le%20medir%C3%A1%20la%20presi%C3%B3n,colesterol%20y%20triglic%C3%A9ridos%20en%20sangre.

https://www.farmaceuticos.com/pam/temas/formacion-continuada/metabolopatias-y-su-tratamiento/

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