6-pyruvoyl tetrahydropterin synthase deficiency: a case report.

A 5 day old girl screened positive for hyperphenylalaninemia on routine newborn screening. Initial diagnostic work-up showed elevated blood phenylalanine of 1100 mmol/L and low tyrosine. Limited protein diet and phenylalanine-free formula were prescribed. Further investigation revealed a defect in biopterin metabolism. Urine had no detectable biopterin (BH4) and an elevated level of neopterin at 24.31 mmol/mole Cr. Enzymatic assay showed zero level of 6-pyruvoyl tetrahydropterin synthase. The activity in the mother was 3.5 or 19.9% of controls consistent with heterozygosity. The concentrations of 5-hydroxyindoleacetic acid and homovanillic acid in the cerebrospinal fluid were below the reference ranges. A treatment regimen of BH4 tablets, 5 hydroxytryptophan and DOPA was initiated. The diagnostic evaluation, management and follow-up of patients with this disorder will be outlined. This is the first reported case of a Filipino with a defect in biopterin metabolism.

Urinary neopterin and dihydropteridin reductase in children with rheumatoid arthritis

To evaluate the role of pteridin pathway in juvenile rheumatoid arthritis [JRA] urinary neopterin, dihydropterin reductase activity [DHPR] together with serum creatinine and C reactive protein was estimated in 20 children with JRA during activity [GI] and 20 children with JRA during remission [GII] compared with 15 healthy children [GIII]. Neopterin excretion was significantly increased in GI with active RA [608.25 +/- 181.2] than GII with RA during remission [137.6 +/- 33] and GIII [79.2 +/- 26.79]. No statistical correlation was found between urinary neopterin excretion and DHPR in the studied groups

Comparison of urinary neopterin to creatinin ratio in multiple sclerosis patients and controlled group

Multiple Sclerosis as the most common cause of demyelinating disorders has a basis of autoimmunity. To describe a procedure to determine total and aromatic UNCR and their ratio as a marker of cell mediated immunity in MS patients and controlled groups. In this project UNCR was determined and compared in MS patients who reffered to the neurology department of Shariati's Hospital and normal subjects. Using HPLC and Novapak C18 [3.9x300mm] column at 25 degrees centigrade. Mean of aromatic UNCR were 337.6 +/- 47.2 and 1273.1 +/- 201.64 micromol/mol, mean of total UNCR were 484.64 +/- 60.2 and 1800.3 +/- 250.1 micromol/mol, and the ratio of aromatic/total UNCR were 0.664 and 0.73 in normal subjects and MS patients respectively. Prominent elevation of aromatic UNCR in MS patients in comparison with normal subjects is the sign of high activity of cell- mediated immunity in this group even though with treatment

Prediction of clinical remission in systemic lupus erythematosus

The possible laboratory test[s] that could predict clinical remission was investigated in a group of 33 active systemic lupus erythematosus patients [SLE] in a prospective randomized study. The results showed a significant positive correlation between the duration of the treatment and SLE disease activity index [SLEDAI] score. Stepwise multiple linear regression analysis revealed that urine neopterin and C3 correlate with SLEDAI score during remission. Logistic regression analysis showed that patients had decline in the values of urine neopterin and urine neopterin/creatinine ratio was more likely to enter clinical remission than those with persistent higher values

Clinical significance of urinary neopterin in chronic liver disease

Increased neopterin concentration in serum, urine and other biological fluids have been reported in conditions causing stimulation of cellular immunity with increased macrophage activity. Assessment of neopterin production in these conditions conveys useful information on disease activity and prognosis. In our study, urinary neopterin was measured in 40 patients with liver cirrhosis of different etiologies other than hepatitis B infection and 30 controls. The results showed high significant statistical difference between group I [HCV with viremia], group II [HCV without virenlia], group III [HCV+viremia+Bilharziasis] [P<0.001] and significant statistical difference for group IV [Bilhraziasis without HCV] [P<0.05] compared with the control group. The highest mean value of urinary neopterin was in group 1 [299.98 +/- 94.785] which was significantly higher than group II [216.18 +/- 37.55] and group IV [201.29 +/- 52.46] [P<0.05] no statistical difference with group III [226.56 +/- 80.18] [P> 0.05]. In conclusion, urinary neopterin has proved to be a simple and reliable method which helps in the diagnosis of activity in chronic HCV infection in patients with chronic liver disease