↑, 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.
| Blood | Urine | Cerebrospinal fluid | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM number | Phe | Neo | Bio | Pri | Neo | Bio | Sep | 5HIAA | HVA | Folates |
| GTPCH deficiency (autosomal recessive) | 233910 | ↑ | ↓ | ↓ | n | ↓ | ↓ | n | ↓ | ↓ | n |
| PTPS deficiency | 261640 | ↑ | ↑ | ↓ | n | ↑ | ↓ | n | ↓ | ↓ | n |
| PCD deficiency | 264070 | ↑ | ↑ | n-↓ | ↑ | n | n | n | n | n | n |
| DHPR deficiency | 261630 | ↑ | n | n-↑ | n | n | ↑* | n | ↓ | ↓ | ↓ |
| GTPCH deficiency (autosomal dominant; DRD) | 128230 | n | n | n | n | ↓ | ↓ | n | n-↓ | ↓ | n |
| SR deficiency | 612716 | n | n | n | n | n | ↑* | ↑ | ↓ | ↓ | n |
↵*7,8-dihydrobiopterin