Dihydropteridine Reductase Deficiency
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Dihydropteridine Reductase Deficiency Overview

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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?
Advanced in Dihydropteridine Reductase Deficiency
Advanced in Dihydropteridine Reductase Deficiency
Referral required

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

Advanced in Dihydropteridine Reductase Deficiency
Dr. Anthony Perszyk
Medical Genetics
Advanced in Dihydropteridine Reductase Deficiency
Dr. Anthony Perszyk
Medical Genetics
Referral may be required

St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-8413
Languages Spoken:
English
See accepted insurances

Anthony Perszyk is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Perszyk is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Dihydropteridine Reductase Deficiency, Maternal Hyperphenylalaninemia, and Mucolipidosis 3. Dr. Perszyk is board certified in American Board Of Medical Genetics And Genomics.

 
 
 
 
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Advanced in Dihydropteridine Reductase Deficiency
Advanced in Dihydropteridine Reductase Deficiency
Referral may be required

St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-8413
Languages Spoken:
English
See accepted insurances

Tarachandra Narumanchi is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Narumanchi is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics.

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