ABSTRACT
<p><b>OBJECTIVES</b>To assess the incidence of tetrahydrobiopterin (BH4) deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese and evaluate clinical outcome and gene mutations in tetrahydrobiopterin deficient patients.</p><p><b>METHODS</b>Urinary neopterin (N) and biopterin (B) was analyzed in 87 patients with hyperphenylalaninemia by high-performance liquid chromatography. Further combined loading tests with phenylalanine (Phe) (100 mg/kg) and tetrahydrobiopterin (BH4) (7.5 mg/kg) were performed in suspected patients with abnormal urinary pterin profiles. Gene mutation analysis was performed for patients with BH4 deficiency and their parents. BH4 deficient patients were treated with BH4 and neurotransmitter precursors after diagnosis. Blood phenylalanine levels, clinical symptoms and mental development were followed up.</p><p><b>RESULTS</b>Eleven patients were diagnosed as having BH4 deficiency caused by 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency. The incidence of tetrahydrobiopterin (BH4) deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese was 10%. Combined loading tests with phenylalanine and oral BH4 were done in 4 of 11 patients and their phenylalanine levels were decreased to normal 4 - 6h after BH4 administration. Four different mutations (P87S, N52S, D96N and G144R) in the PTPS gene were detected in 5 families. Five PTPS-deficient patients were treated with synthetic BH4, neurotransmitter precursors (L-dopa plus carbidopa, and 5-hydroxytryptophan). They had satisfactory physical and mental development after treatment. One patient with partial PTPS deficiency had normal growth and mental development without treatment.</p><p><b>CONCLUSIONS</b>Our results emphasize that screening for BH4 deficiency should be carried out in all patients with hyperphenylalaninemia in order to minimize the misdiagnosis. Patients with BH4 deficiency should be treated early with BH4 and a combination of neurotransmitter precursors.</p>
Subject(s)
Humans , Biopterins , Urine , China , DNA Mutational Analysis , DNA, Complementary , Chemistry , Genetics , Follow-Up Studies , Genetic Testing , Mutation, Missense , Neopterin , Urine , Phenylketonurias , Blood , Genetics , Phosphorus-Oxygen Lyases , Genetics , MetabolismABSTRACT
A method for enzyme immunoassay of thyroid-stimulating hormone(TSH) was presented. Horse-redish peroxidase was used as the marker enzyme. The separation of the bound and free fractions was achieved by second anti body coated polyacetyl beads. Para-cresollH_2O_2 system was used as the substrate and the enzyme activity was measured fluorophotometrically. The assay sensitivity is 0.08 ?U/tube. The volume of serum used is 20-50?l. Within assay C. V. was 7.7-11.7％. Inter-assay C. V. was 4.8-17％. The TSH values detected by this method correlates well with that of RIA(r=0.91). Three principal reagents(anti-TSH serum, second antibody coated polyacetol beads and HRP-TSH conjugate) were all generated by the laboratory. According to the normal values investigated, the hypothyroid samples tested and TRH releasing tests, the results were applicable to the clinical conditions very well. The benefits of EIA versus that of RIA have been discussed.
ABSTRACT
The sella MRIand CT of 11 patients with primary pituitary dwarfism (PPD) were evaluated in this study. The results revealed that MRI could find the aplasia of the pituitary and the abnormality of the pituitary stalk and pituitary posterior lobe, while CT only could show the disapperance of the pituitary and not the morphology of the pituitary and its posterior lobe. The CT scanning of the pituitary stalk was less clear than that of MRI. It is suggested that MRI has better tissue contrast and sensitivity, especially to the display of slight structure. Besides, the sella abnormality in MRI provides an important morphological basis for diagnosis and treatment of PPD.
ABSTRACT
The total fatty acid in adipose tissue and total and free fatty acid in plasma, using tridecanoic (Cl3:0) and heptadecanoic acid (Cl7:0) as the internal standard (IS) respectively, were analysed by GC. In analysing total fatty acid, the esterification rate was 103.53% (IS Cl3:0) and 102.86% (IS C17:0); the recovery of lauric, myristic, stearic and arachidic acid was 101.0-103,3%, 102,1-494.1%, 103,1-104.5% and 100,0-105.0%; the CV of individual fatty acid were within the range of 2.24-8.46%. In analysing free fatty acid, the esterification rate in use of C17: 0 as the IS was 102.99%; the recovery of lauric, myristic, stearic and arachidic acid was 83.5-87.3%, 96.4-99.6%, 94.3-101.9%, and 82.0-105.0% respectively, the CV of individual fatty acid were within the range of 1.41-6.21%. The procedure analysing total fatty acid is especially simple, speedy, and reliable.
ABSTRACT
Serum free fatty acids were isolated with trichloromethane and esterified with boratotrifluoricether/methanol. Heptadecanoic acid (17:0) was used as internal standard. The recovery rate of this method was 86.4% and coefficient of variation was 6.9%. The mean level of 25 normal adult serum samples was coincident with the data reported.
ABSTRACT
The estimation of a-tocopherol in human blood was carried out by gas chromatography. The cholesterol in plasma must he removed in advance. The a-tocopherol is chromatographed as tocopherol acetate and is eluted with a retention time of about 8 min. Tetratriacontane was used as internal standard. The average recovery rate was 76.4 per cent and coefficient of variation was 4.4 per cent (N = 10). The mean level in 25 cord blood was 2.1 ?0.5 ?g/ml. It correlated well with the results by spectrophotome-tric method (r=0.6803 P
ABSTRACT
Serum vitamin E was determined using bathopllenanthroline by microspe-ctrophotometric method. The average recovery rate was 93.8 (92.2-98.0) per cent and the coefficients of variation were 2.5 and 7 per cent in high and low levels respectively. This method seems to be quite reliable and sensitive. Of the total 117 serum samples, 30 pairs matched blood for mother and cord, 27 cord blood, and 30 normal adults as control were studied. The mean level of vitamin E in the cord blood was 2.8 ug/ml (?0.9SD), which was about one third of that in the adult. The level of vitamin E in post-partum mother was 12 ?g/ml (?2.5 SD), which was significantly higher than that of nonpregnant women (p