Tetrahydrobiopterin deficiency

Can tetrahydrobiopterin (BH4) deficiency cause feeding problems and failure to thrive in babies?

Feeding problems are common in babies with BH4 deficiency and may include poor sucking and/or difficulty swallowing.

While failure to thrive is not necessarily a primary feature of BH4 deficiency, it may be a secondary complication. Feeding difficulties can cause failure to thrive. If an affected infant does not feed appropriately, he/she may fail to gain weight and/or grow at the expected rate.

Last updated on 05-01-20

Newborn Screening

tetrahydrobiopterin deficiency

The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the links to view details for this condition.
Disorders of biopterin biosynthesis
Disorders of biopterin regeneration

Last updated on 04-27-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: https://www.metabolicsupportuk.org/contact-us Url: https://www.metabolicsupportuk.org
Name: American Association on Intellectual and Developmental Disabilities 501 3rd Street NW Suite 200
Washington, DC, 20001, United States
Phone: (202) 387-1968 Toll Free: (800) 424-3688 Fax : (202) 387-2193 Url: http://www.aaidd.org
Name: The Arc of the United States 1825 K Street, NW Suite 1200
Washington, DC, DC, 20006, United States
Phone: +1-202-534-3700 Toll Free: 1-(800) 433-5255 Fax : +1-202-534-3731 Email: info@thearc.org Url: https://www.thearc.org/
Name: Pediatric Neurotransmitter Disease Association 28 Prescott Place
Old Bethpage, NY, 11804, United States
Phone: 603-733-8409 Email: pnd@pndassociation.org Url: http://www.pndassoc.org/
Name: Genetic Metabolic Dietitians International P.O. Box 1462
Hillsborough, NC, 27278, United States
Email: info@gdmi.org Url: http://www.gmdi.org/
Name: The Society for Developmental and Behavioral Pediatrics 6728 Old McLean Village Drive
McLean, VA, 22101, United States
Phone: 703-556-9222 Email: info@sdbp.org Url: http://www.sdbp.org/index.cfm

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