Inborn Amino Acid Metabolism Disorder Overview

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Learn About Inborn Amino Acid Metabolism Disorder

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?
Advanced in Inborn Amino Acid Metabolism Disorder
Dr. John A. Gryspeerdt
Family Medicine
Advanced in Inborn Amino Acid Metabolism Disorder
Dr. John A. Gryspeerdt
Family Medicine

Margaret Mary Community Hospital Inc

188 State Rd 129, Margaret Mary Physician Partners, 
Batesville, IN 
 (1.3 mi)
812-934-6400
Languages Spoken:
English
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Accepting New Patients

John Gryspeerdt is a Family Medicine provider in Batesville, Indiana. Dr. Gryspeerdt and is rated as an Advanced provider by MediFind in the treatment of Inborn Amino Acid Metabolism Disorder. His top areas of expertise are Sitosterolemia, Hypertension, Glucocorticoid-Remediable Aldosteronism, and Familial Hypertension. Dr. Gryspeerdt is currently accepting new patients.

Experienced in Inborn Amino Acid Metabolism Disorder
Dr. Lauri E. Nandyal
Family Medicine
Experienced in Inborn Amino Acid Metabolism Disorder
Dr. Lauri E. Nandyal
Family Medicine
2751 O'varsity Way Ste 335, 
Cincinnati, OH 
 (39.7 mi)
513-556-2564
Languages Spoken:
English, Spanish
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Accepting New Patients

Lauri Nandyal is a Family Medicine provider in Cincinnati, Ohio. Dr. Nandyal and is rated as an Experienced provider by MediFind in the treatment of Inborn Amino Acid Metabolism Disorder. Her top areas of expertise are Methylmalonic Acidemia with Homocystinuria, Hashimoto Thyroiditis, MAGIC Syndrome, and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus Infections. Dr. Nandyal is currently accepting new patients.

 
 
 
 
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Advanced in Inborn Amino Acid Metabolism Disorder
Dr. Maureen Li
Neurology
Advanced in Inborn Amino Acid Metabolism Disorder
Dr. Maureen Li
Neurology

Riverhills Healthcare Inc

4805 Montgomery Road, Ste. 150, 
Cincinnati, OH 
 (42.1 mi)
513-961-5558
Languages Spoken:
English, Mandarin
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Accepting New Patients

Maureen Li is a Neurologist in Cincinnati, Ohio. Dr. Li and is rated as an Advanced provider by MediFind in the treatment of Inborn Amino Acid Metabolism Disorder. Her top areas of expertise are Autosomal Dominant Partial Epilepsy with Auditory Features, Memory Loss, Seizures, and Methylmalonic Acidemia with Homocystinuria. Dr. Li is currently accepting new patients.

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What are the latest Inborn Amino Acid Metabolism Disorder Clinical Trials?
A Study To Evaluate The Acceptability Of the Express Plus Range, Foods For Special Medical Purposes (FSMP), In Children And Adults With Inborn Errors of Metabolism (IEM)
A Study To Evaluate The Acceptability Of the Express Plus Range, Foods For Special Medical Purposes (FSMP), In Children And Adults With Inborn Errors of Metabolism (IEM)
Enrollment Status: Recruiting
Publish Date: February 14, 2025
Intervention Type: Dietary supplement
Study Phase: Not Applicable

Summary: A prospective, open label, acceptability study to evaluate PKU, MSUD, HCU, TYR and GA express plus in the dietary management of 40 patients with IEM. The following parameters will be assessed: adherence to prescribed dietary intakes, palatability, usability, gastrointestinal tolerance, clinically relevant routine biochemical parameters, timeframe to transition and contribution of the express plus ...

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