The dreaded genetic metabolic diseases you didn't know about!

Genetic metabolic diseases are caused by genetic defects in the biosynthesis of certain enzymes, inherited metabolic disorders receptors, carriers and membrane ...

Mar 31,2022 | Moon

Genetic metabolic diseases are caused by genetic defects in the biosynthesis of certain enzymes, inherited metabolic disorders receptors, carriers and membrane pumps necessary for normal metabolism, i.e. mutations in the genes that code for these peptides (proteins).

Most of the diseases are monogenic and belong to autosomal recessive genetics.

What are the different types of genetic metabolic disorders?

There are many diseases that involve the synthesis, metabolism, transport and storage of various biochemical substances in the body. The congenital defects in the body can be classified according to the biochemical substances involved as follows.

1. glucose metabolism defects galactosemia, fructose intolerance, glycogen accumulation disorders, sucrose and isomaltose intolerance, lactic acid and pyruvic acidosis, etc. Figure 2.

2. amino acid metabolic defects, phenylketonuria, tyrosinemia, melanosis, albinism, maple syrup diabetes, isovaleric acidemia, cystinuria, congenital hyperammonemia, hyperglycinemia, etc.

Lipid metabolism defects, such as adrenal leukodystrophy, GM1 ganglioside deposition, GM2 ganglioside deposition, mid-chain fatty acid acyl coenzyme a dehydrogenase deficiency, Niemann's disease and Gossett's disease.

4. Metallometabolic diseases such as liver disease (Wilton's disease) and Menkes' disease.

What are the symptoms of genetic metabolic diseases?

The symptoms of this disease vary according to age and the common clinical manifestations are:

Neurological: mental retardation, irritability and pale membranes, convulsions, motor disturbances, lethargy and coma, altered muscle tone.

2. Digestive information system: feeding economic difficulties, loss of appetite, nausea and vomiting, jaundice, liver enlargement, bloating and diarrhea, abnormal liver function.

3. Metabolic disorders: hypoglycemia, hyperammonemia, metabolic acidosis, ketosis and lactic acidosis.

4. Respiratory distress, heart failure, abnormal heart rhythm.