BACKGROUND Inborn errors of metabolism are a significant cause of morbidity and death among children. Inconsistencies in how individual states arrive at screening strategies, however, lead to marked variations in testing between states. OBJECTIVE To determine the cost-effectiveness of each component test of a multitest newborn screening program, including screening for phenylketonuria, congen...

We propose determination of the ratio of the rate of galactose metabolism to glucose metabolism by erythrocytes as a screening test for abnormalities in glucose and galactose metabolism. Packed erythrocytes (20 mul) are incubated for 1 h at 37 degrees C in 0.42 ml of a solution comprising phosphate buffer (pH 7.4), 0.4 mg of glucose, 60 mg of methylene blue, and 50 nCi of either [1-14C]glucose ...

Impairment of the human enzyme galactose-1-phosphate uridylyltransferase (GALT) results in the potentially lethal disorder galactosemia; the biochemical basis of pathophysiology in galactosemia remains unknown. We have applied a yeast expression system for human GALT to test the hypothesis that genotype will correlate with GALT activity measured in vitro and with metabolite levels and galactose...

On the Riemann hypothesis we establish a uniform upper estimate for zeta(s)/zeta (s + A), 0 < or = A, on the critical line. We use this to give a purely complex-analytic variant of Báez-Duarte's proof of a strengthened Nyman-Beurling criterion for the validity of the Riemann Hypothesis. We investigate function-theoretically some of the functions defined by Báez-Duarte in his study and we show t...

Patients with classic galactosemia, an inborn error of metabolism, have speech and language production impairments. Past research primarily focused on speech (motor) problems, but these cannot solely explain the language impairments. Which specific deficits contribute to the impairments in language production is not yet known. Deficits in semantic and syntactic planning are plausible and requir...

Cranial CT changes associated with metabolic and storage disorders have been well documented. However, until recently [1], CT findings in galactosemia had not been shown. Previous neuropathologic autopsy findings in galactosemia have been described by Crome [2] as a "microencephaly caused by a mainly burnt out gliotic encephalomyelopathy ." Hypothesized causes for this encephalopathy include hy...