Sepiapterin reductase deficiency
Sepiapterin Reductase Deficiency (SRD) is a rare genetic disorder that affects the body's ability to produce tetrahydrobiopterin (BH4), a critical cofactor in the synthesis of neurotransmitters such as serotonin, dopamine, and norepinephrine. This condition falls under the umbrella of Biopterin Defect in Cofactor Biosynthesis, a group of disorders affecting neurotransmitter synthesis. SRD is caused by mutations in the PCBD1 gene, which encodes the enzyme sepiapterin reductase responsible for the final step in BH4 synthesis.
Symptoms and Diagnosis[edit | edit source]
The symptoms of SRD can vary widely among affected individuals but often include developmental delay, movement disorders, hypotonia (decreased muscle tone), and seizures. Due to the broad range of symptoms and the rarity of the condition, SRD can be difficult to diagnose. Diagnosis typically involves a combination of clinical evaluation, biochemical tests measuring neurotransmitter and biopterin levels in cerebrospinal fluid (CSF), and genetic testing to identify mutations in the PCBD1 gene.
Treatment[edit | edit source]
Treatment for SRD focuses on supplementing the deficient neurotransmitters and may include L-DOPA (with a peripheral decarboxylase inhibitor), 5-hydroxytryptophan (5-HTP), and other supplements to increase the levels of serotonin and dopamine in the brain. Additionally, treatment with BH4 supplements may be beneficial in some cases. Early diagnosis and treatment are crucial for improving the quality of life for individuals with SRD.
Epidemiology[edit | edit source]
SRD is an extremely rare condition, with only a small number of cases reported in the medical literature. It affects males and females equally and has been identified in individuals of various ethnic backgrounds.
Research[edit | edit source]
Research on SRD is ongoing, with studies focusing on understanding the genetic mutations leading to the condition, developing more effective treatments, and exploring the long-term outcomes for individuals with SRD. Advances in genetic testing and newborn screening may improve early diagnosis and treatment outcomes in the future.
Translate: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD