Sepiapterin reductase deficiency

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Obesity, Sleep & Internal medicine
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Sepiapterin reductase deficiency
Synonyms	SPR deficiency, BH4 deficiency
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, hypotonia, movement disorders, dystonia, parkinsonism, seizures
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the SPR gene
Risks	Autosomal recessive inheritance
Diagnosis	Genetic testing, biochemical analysis
Differential diagnosis	Phenylketonuria, Dopa-responsive dystonia
Prevention	N/A
Treatment	Levodopa, 5-HTP, Folinic acid
Medication	N/A
Prognosis	Variable, depends on early diagnosis and treatment
Frequency	Rare
Deaths	Not typically fatal

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

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

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

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

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.

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