Inborn Amino Acid Metabolism Disorder
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Inborn Amino Acid Metabolism Disorder Overview

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What is the definition of Inborn Amino Acid Metabolism Disorder?
Inborn amino acid metabolism disorder is a term used to describe genetic conditions such as phenylketonuria (PKU), maple syrup disease, fructose intolerance, and galactosemia. In inborn amino acid metabolism disorders, the body does not break down amino acids properly, which are chemicals that help to form proteins. This inability to break down amino acids causes a build up of harmful substances in the body.
What are the symptoms of Inborn Amino Acid Metabolism Disorder?
Inborn amino acid metabolisms disorders cause a buildup of harmful substances in the body that, depending on the type of disorder, can cause symptoms such as seizures, brain damage, intellectual disabilities, behavioral disorders, nausea, vomiting, weakness, poor muscle tone, gas, bloating, diarrhea, abdominal pain, irritability, lethargy, poor infant feeding, lack of infant weight gain, and yellowing of the skin and whites of the eyes.
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What are the current treatments for Inborn Amino Acid Metabolism Disorder?
Treatment for inborn amino acid metabolism disorders depends on the type. Treatments for inborn amino acid metabolism disorders can include special diets, medications, and supplements.
Who are the top Inborn Amino Acid Metabolism Disorder Local Doctors?
Elite in Inborn Amino Acid Metabolism Disorder
Elite in Inborn Amino Acid Metabolism Disorder
Referral may be required
Dornbirn, AT 

Martina Huemer practices practicing medicine in Dornbirn, Austria. Ms. Huemer is rated as an Elite expert by MediFind in the treatment of Inborn Amino Acid Metabolism Disorder. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Homocystinuria due to MTHFR Deficiency, Inborn Amino Acid Metabolism Disorder, Homocystinuria, and Urea Cycle Disorders (UCD).

Advanced in Inborn Amino Acid Metabolism Disorder
Geriatrics | Internal Medicine
Advanced in Inborn Amino Acid Metabolism Disorder
Geriatrics | Internal Medicine
Referral may be required

Suburban Geriatrics Inc

2901 Jolly Road, 
Plymouth Meeting, PA 
Languages Spoken:
English
Offers Telehealth

Robert Pearlstein is a primary care provider, practicing in Geriatrics and Internal Medicine in Plymouth Meeting, Pennsylvania. Dr. Pearlstein is rated as an Advanced provider by MediFind in the treatment of Inborn Amino Acid Metabolism Disorder. He is also highly rated in 180 other conditions, according to our data. His clinical expertise encompasses Dementia, Alzheimer's Disease, Painful Swallowing, Gastrostomy, and Endoscopy. Dr. Pearlstein is board certified in  .

 
 
 
 
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Experienced in Inborn Amino Acid Metabolism Disorder
Hematology | Oncology
Experienced in Inborn Amino Acid Metabolism Disorder
Hematology | Oncology
Referral may be required

Advocate Christ Outpatient Pavilion Oncology

4440 W 95th St 8th Fl, 
Oak Lawn, IL 
Experience:
44+ years
Languages Spoken:
English, Hindi, Urdu
Offers Telehealth

Riaz Elahi is a Hematologist and an Oncologist practicing medicine in Oak Lawn, Illinois. He has been practicing medicine for over 44 years. Dr. Elahi is rated as an Experienced provider by MediFind in the treatment of Inborn Amino Acid Metabolism Disorder. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Multiple Myeloma, Breast Cancer, Paget Disease of the Breast, and Pleuropulmonary Blastoma. Dr. Elahi is board certified in American Board Of Internal Medicine, Hematology.

What are the latest Inborn Amino Acid Metabolism Disorder Clinical Trials?
Pilot Study of At Home Ammonia Monitoring in Patients With an Inborn Error of Ammonia Metabolism

Summary: The goal of this observational study is to learn if people with certain ammonia metabolism disorders will measure their ammonia levels at home. The main question it aims to answer is: • Will participants measure their ammonia every day? Participants will be asked to: * Attend two in-person study visits at the clinic. * Measure temperature, heart rate, and blood oxygen every day. * Complete a short...

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