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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?
Medical Genetics | Pediatrics
Medical Genetics | Pediatrics

Massachusetts General Physicians Organization Inc

55 Fruit St, 
Boston, MA 
 (65.8 mi)
Languages Spoken:
English, Hindi
Accepting New Patients
Offers Telehealth

Inderneel Sahai is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Sahai and is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Maple Syrup Urine Disease, Phenylketonuria (PKU), De Barsy Syndrome, and Increased Head Circumference. Dr. Sahai is currently accepting new patients.

Medical Genetics | Pediatrics
Medical Genetics | Pediatrics

Baystate Medical Practices Inc

759 Chestnut St, 
Springfield, MA 
 (127.6 mi)
Languages Spoken:
English
Offers Telehealth

Mary-alice Abbott is a Medical Genetics specialist and a Pediatrics provider in Springfield, Massachusetts. Dr. Abbott and is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, Mucopolysaccharidoses (MPS), and Danon Disease.

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