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Overview of neurochemical changes in disorders of tetrahydrobiopterin biosynthesis

Cerebrospinal fuid (CSF) and urine abnormalities in a number of disorders of tetrahydrobiopterin biosynthesis.




CSF





HVA 5-HIAA MHPG Neopterin Biopterin Sepiapterin
GTP Cyclohydrolase Deficiency (Dominant)

decreased decreased decreased decreased decreased normal
GTP Cyclohydrolase Deficiency (Recessive)

very low very low very low decreased decreased normal
6-PTPS Deficiency

inconclusive decreased decreased increased decreased normal
Sepiapterin Deficiency

very low very low very low decreased increased increased
DHPR Deficiency decreased decreased decreased increased increased normal















Urine





Neopterin Biopterin



GTP Cyclohydrolase Deficiency (Dominant)

normal normal



GTP Cyclohydrolase Deficiency (Recessive)

decreased decreased



6-PTPS Deficiency

increased decreased



Sepiapterin Deficiency

normal normal



DHPR Deficiency slightly increased increased






For most of these Neurotransmitter Biosynthesis Disorders our lab offers mutation analysis of the respective genes.
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