Dihydropteridine Reductase Deficiency Overview

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Learn About Dihydropteridine Reductase Deficiency

What is the definition of Dihydropteridine Reductase Deficiency?
Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4). Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine, and it is also involved in the production of neurotransmitters. If little or no tetrahydrobiopterin is available to help process phenylalanine, this amino acid can build up in the blood and other tissues and the levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid are also decreased. This results in neurological symptoms such as psychomotor delay, low muscle tone (hypotonia), seizures, abnormal movements, too much salivation, and swallowing difficulties. DHPR deficiency is caused by genetic changes in the QDPR gene. It is inherited in an autosomal recessive manner.
What are the alternative names for Dihydropteridine Reductase Deficiency?
  • Dihydropteridine reductase deficiency
  • DHPR deficiency
  • Hyperphenylalaninemia due to dihydropteridine reductase deficiency
  • Hyperphenylalaninemia, BH-4-deficient, C
  • PKU type 2
  • Phenylketonuria type 2
  • QDPR deficiency
  • Quinoid dihydropteridine reductase deficiency
Who are the top Dihydropteridine Reductase Deficiency Local Doctors?
Experienced in Dihydropteridine Reductase Deficiency
Dr. Amy L. Calhoun
Medical Genetics | Pediatrics
Experienced in Dihydropteridine Reductase Deficiency
Dr. Amy L. Calhoun
Medical Genetics | Pediatrics

State University Of Iowa

200 Hawkins Dr, 
Iowa City, IA 
319-356-1616
Languages Spoken:
English, French
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Accepting New Patients

Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider in Iowa City, Iowa. Dr. Calhoun is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.

Distinguished in Dihydropteridine Reductase Deficiency
Francesco Porta
Distinguished in Dihydropteridine Reductase Deficiency
Francesco Porta

AOU Citta' Della Salute E Della Scienza Di Torino

Turin, IT 

Francesco Porta practices in Turin, Italy. Mr. Porta is rated as a Distinguished expert by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, Isovaleric Acidemia, Inborn Amino Acid Metabolism Disorder, and Liver Transplant.

 
 
 
 
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Distinguished in Dihydropteridine Reductase Deficiency
Mahoko Furujo
Distinguished in Dihydropteridine Reductase Deficiency
Mahoko Furujo
Okayama, JP 

Mahoko Furujo practices in Okayama, Japan. Furujo is rated as a Distinguished expert by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Their top areas of expertise are Dihydropteridine Reductase Deficiency, Hypermethioninemia, Gaucher Disease Type 2, and Mucopolysaccharidoses (MPS).

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center