Table 2 Inherited disorders of BH4 metabolism and biochemical markers for differential diagnosis

↑, elevated; ↓, lowered; 5HIAA, 5-hydroxyindoleacetic acid; Bio, biopterin; HVA, homovanillic acid; n, normal; Neo, neopterin; OMIM, Online Mendelian Inheritance in Man; Phe, phenylalanine; Pri, primapterin (7-biopterin); Sep, sepiapterin.

BloodUrineCerebrospinal fluid
DiseaseOMIM numberPheNeoBioPriNeoBioSep5HIAAHVAFolates
GTPCH deficiency (autosomal recessive)233910nnn
PTPS deficiency261640nnn
PCD deficiency264070n-↓nnnnnn
DHPR deficiency261630nn-↑nn*n
GTPCH deficiency (autosomal dominant; DRD)128230nnnnnn-↓n
SR deficiency612716nnnnn*n
  • *7,8-dihydrobiopterin