Inherited metabolic diseases

What is it? Answer What causes it? Answer How many causes are there?Answer What are the risk factors? Answer What's normal? Answer How is it diagnosed? Answer What are the symptoms? Answer What are the signs? Answer What are the clinical findings? Answer What are the lab or investigation findings? Answer What is the treatment? Answer What are the workable treatment options? Answer How could this be prevented? Answer

Inherited metabolic diseases There are hundreds of inherited metabolic disorders caused by different genes. Symptoms depend on the type of disorder and how severe it is. What is it? Inherited metabolic disorders are medical conditions caused by changes in specific genes that affect metabolism. Different gene changes cause different types of inherited metabolic disorders. These gene changes are most commonly passed down from both parents. But sometimes the gene change comes only from one parent, most often from the mother. These disorders also are called inborn errors of metabolism. Metabolism is the complex set of chemical reactions that your body uses to maintain life. These include: Making energy. Special enzymes break down food or certain chemicals so your body can use them right away for fuel or store them for later use. Making or getting rid of substances. Certain chemical processes make substances your body needs. Other chemical processes break down substances that your body no longer needs. When these processes don't work properly, a metabolic disorder occurs. It may be due to an enzyme that's too low or missing or to another problem. Inherited metabolic disorders fall into different groups. They're grouped by the substance affected and whether it builds up too much because it can't be broken down or it's too low or missing. Symptoms There are hundreds of inherited metabolic disorders caused by different genes. Symptoms depend on the type of disorder and how severe it is. Symptoms of Inherited Metabolic Disorders What are the symptoms? Some symptoms of inherited metabolic disorders include: Lethargy Poor appetite Abdominal pain Vomiting Weight loss Jaundice Abnormal odor of urine, breath, sweat, or saliva Failure to gain weight or grow Developmental delay Seizures Coma What are various examples? Examples of inherited metabolic disorders include: Familial hypercholesterolemia. Gaucher disease. Hunter syndrome. Krabbe disease. Maple syrup urine disease. Metachromatic leukodystrophy. Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS). Niemann-Pick. Phenylketonuria (PKU). Porphyria. Tay-Sachs disease. Wilson's disease. Where do you go for further details? https://www.webmd.com Common and Rare Pediatric conditions https://www.qureshiuniversity.com/pediatricsworld.html