Homocystinuria

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.

Disease Alternative Name

amino acid metabolism disorders
MainRecentTopDoctors

Recent Cases of Homocystinuria

Browse recently discussed Homocystinuria cases by specialists

Top Homocystinuria Doctors on Curofy

Top doctors who continously share their opinions on Homocystinuria
kolkata
904 followers

Eye Care & Research Centre, Kolkata for About 25 Years

Consultant

Eye Care & Research Centre, Kolkata

MS, DO

User Languages
Speaks Bengali, English, Hindi
Srinagar
568 followers

Florence Hospital

Sr Consultant Ophthalmologist

Linkedin

POSTED MORE THAN 1600 OPHTHALMIC ARTICLES TILL DATE

User Languages
Speaks English
Durg-Bhilai
529 followers

S M S Medical College & Hospital

Assistant Professor Ophthalmology

Dr R P Centre, AIIMS,

MD Ophthalmology

User Languages
Speaks English, Hindi
257 followers
User Languages
Speaks English
kolkata
4374 followers

PGIMER, Chandigarh

MD

User Languages
Speaks Bengali, English, Hindi, Nepali

Trending Cases