loading...| Preferred Name |
Amino Acid Metabolism Disorders |
| Definitions |
<p>Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body. If you have a <a href='https://medlineplus.gov/metabolicdisorders.html'>metabolic disorder</a>, something goes wrong with this process.</p> <p>One group of these disorders is amino acid metabolism disorders. They include <a href='https://medlineplus.gov/phenylketonuria.html'>phenylketonuria</a> (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems.</p> <p>These disorders are usually inherited. A baby who is born with one may not have any symptoms right away. Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get <a href='https://medlineplus.gov/newbornscreening.html'>screened</a> for many of them, using blood tests.</p> <p>Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if there are complications.</p> |
| ID |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002514 |
| cui |
C0002514 |
| Date created |
08/23/2016 |
| definition |
Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body. If you have a metabolic disorder, something goes wrong with this process. One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems. These disorders are usually inherited. A baby who is born with one may not have any symptoms right away. Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests. Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if there are complications. |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0018995 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0020456 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0524620 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002726 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0392201 http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456542 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019202 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0017205 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0031485 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0025517 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007570 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0011175 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0011849 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0028754 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0023520 http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456587 http://purl.bioontology.org/ontology/MEDLINEPLUS/C2362324 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0022951 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0011848 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0154251 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0751651 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0005910 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0035579 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0020615 |
| Mapped from | |
| Mapped to | |
| MP HEALTH TOPIC URL | |
| MP OTHER LANGUAGE URL |
Spanish https://medlineplus.gov/spanish/aminoacidmetabolismdisorders.html |
| notation |
C0002514 |
| prefLabel |
Amino Acid Metabolism Disorders |
| Related to |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0012177 http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456542 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0025517 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0154251 |
| tui |
T047 |
| subClassOf |