Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.

Ten cases of tetrahydrobiopterin (BH4) deficiency were identified in 1,337,490 newborns screened in a Chinese population in Taiwan. The high incidence of BH4 deficiency in the Taiwanese population may be explained by a founder effect, since all of the patients revealed 6-pyruvoyltetrahydropterin synthase gene mutations, and grouping N52S and P87S mutations together constituted 88.9% of the disease alleles. BH4 supplementation with restriction of high-protein foods gave control of plasma phenylalanine within normal range, and levodopa itself prevented seizure. However, the average intelligence quotient (IQ) score of these patients was only 76 +/- 14 (56-98). Statistically, the age of starting medication, including 5-hydroxytryptophan (5-HTP), was inversely correlated to IQ scores of these patients. We suggest the combination of BH4, levodopa and 5-HTP as the standard protocol to commence the treatment of BH4 deficiency as early as possible, although prenatal brain damage could have existed.

Kleine-Levin syndrome in a boy with Prader-Willi syndrome.

A 9 1/2-year-old Taiwanese boy with Prader-Willi syndrome had the following characteristics: difficulties with sucking, feeding and hypotonia during infancy, a dysmorphic face (triangular mouth, high arched palate, almond-shaped eyes and large head circumference with a relatively narrow bifrontal diameter), borderline intelligence, hypogonadism, hyperphagia, skin picking and truncal obesity. The boy experienced two hypersomnia episodes, at age 8 and 9 years, with both episodes lasting for 10 days. During the two episodes, he was found to have an exacerbated case of hyperphagia, pica, poor emotional control, stereotyped speech and agitated behavior upon awakening. After each episode, the boy had complete remission. Our findings show that the two episodes are compatible with Kleine-Levin syndrome. The relationship between the two syndromes, the Prader-Willi syndrome and the Kleine-Levin syndrome, deserves further study.

[Play therapy for a child with separation anxiety disorder].

Separation anxiety disorder is characterized by severe and exceeding anxiety and fear when a child is facing separation with attachment objects. More over, it affected the child in language, emotional and social interest and development. These children usually brought to physician's attention due to refusal to go to school, social withdraw or multiple somatic complaints with attachment behavior wanted to be nearby or closed to the attachment objects. A child's early attachment relationship and previous separation experience play a major role in the formation of separation anxiety disorder. This report presents a psychoanalytically-oriented play therapy for a 2-year-8-month-old boy in 17 months period total of 54 sessions. According to the main themes in each session the process can be divided into 4 stages, namely establishing therapeutic relationship, expressing repressed emotions, management of transference, attachment and conflict in therapy, and self growth and termination. The formulation of this case and management were discussed.

Interactions among dietary minerals, arginine and lysine in rainbow trout (Salmo gairdneri).

Studies were conducted to determine whether interactions occur among dietary lysine, arginine and monovalent minerals in rainbow trout. In one experiment, rainbow trout fingerlings were fed diets containing three levels of lysine (2.4, 3.1 and 3.8 g per 100 g diet), two levels of arginine (1.7 and 2.5 g per 100 g diet) and two mixtures of Na(+) K(+) and Cl in a 3×2×2 factorial design. The mixtures varied in the proportions of cations to anions such that Cl equalled the sum of Na(+) and K(+) (cations - anions = 0 mEq/kg diet) in one mixture and exceeded the sum of Na(+) and K(+) (cations - anions = -200 mEq/kg diet) in the second mixture. Growth and efficiency of feed conversion were not affected by dietary lysine and arginine in fish fed diets containing - 200 mEq/kg balance, but when fish were fed diets containing a 0 mEq/kg balance, 3.8% lysine and a combination of 3.1% lysine and 2.5% arginine depressed both measures of response. Trout receiving the 0 mEq/kg cation-anion balance had significantly higher free histidine concentrations and lower free lysine concentrations in muscle and higher hepatic arginase activity (P≤0.01) than those receiving -200 mEq/kg. In another experiment, trout were fed diets containing three levels of K(+) (21, 191 and 360 mEq/kg), two levels of Na(+) (21 and 191 mEq/kg) and two levels of Cl(-) (179 and 347 mEq/kg) in a 3×2×2 factorial design. Growth and efficiency of feed conversion were depressed and hepatosomatic index increased with higher levels of dietary K(+) (P≤0.01), Na(+) (P≤0.05) and Cl (P≤0.01), with significant K(+) x Cl(+) (P≤0.01) and K(+) x Na(+) x Cl (P≤0.05) interactions. Increasing dietary K(+) resulted in increased levels of muscle free histidine and decreased levels of muscle free lysine and arginine (P≤0.01), while increasing dietary Cl increased muscle free lysine, the effect of which was dependent on dietary potassium (K(+) x Cl(-), P≤0.01). It is concluded that dietary levels of K(+), Na(+) and Cl(-), irrespective of overall cation-anion balance of these minerals, affects growth rate, efficiency of feed utilization and the metabolism of basic amino acids in tissues of trout. Excess lysine causes depressed growth and efficiency of feed utilization. These effects were due to a lysine toxicity rather than a lysine-arginine antagonism, as they were not prevented by supplemental dietary arginine.