The Newborn Screening Study Group first introduced newborn screening in the Philippines in 1996. This group of pediatricians and obstetricians from 24 hospitals in the metropolitan Manila area developed a newborn screening program: (1) to establish the incidence of six metabolic conditions--congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, phenylketonuria, homocystinuria ...

Apoptosis of retinal capillary cells begins early in diabetes and likely contributes to the capillary obliteration that is an important feature of diabetic retinopathy. Caspases are proteolytic enzymes that are closely involved in the induction and execution phases of apoptosis, but their role in the development of diabetic retinopathy has not been studied previously. Our study focused on the m...

In most organisms, the conversion of -D-galactose to the more metabolically useful glucose 1-phosphate is accomplished by the action of four enzymes that constitute the Leloir pathway (Scheme 1). In the first step of this pathway, -D-galactose is epimerized to -D-galactose by galactose mutarotase. The next step involves the ATP-dependent phosphorylation of -D-galactose by galactokinase to yield...

Galactokinase plays a key role in normal galactose metabolism by catalyzing the ATP-dependent phosphorylation of alpha-D-galactose to galactose 1-phosphate. In humans, mutations in the galactokinase gene can lead to the diseased state referred to as Type II galactosemia. Here we describe the three-dimensional structure of galactokinase from Lactococcus lactis determined to 2.1-A resolution. As ...

For many years clinical interest in D-galactose centered about the usefulness of galactose tolerance tests in the diagnosis of impaired liver function. Several investigators, employing an intravenous galactose tolerance test, have reported their results (1-3). The monograph by Stenstam (4) is perhaps the most extensive analysis of both the oral and intravenous tolerance test yet reported. In al...

BACKGROUND The Beutler enzyme spot test is an effective assay for newborn mass screening of galactosemia, but it is qualitative and relies on visual interpretation. We describe a quantitative, instrumental modification of the assay. METHODS We modified the macroscopic visual Beutler enzyme spot test by adding extraction of blood components from filter paper, deproteinization with acetone-meth...

BACKGROUND Hypergonadotropic hypoestrogenic infertility is the most burdensome complication for females suffering from classic galactosemia. In contrast, male gonadal function seems less affected. The underlying mechanism is not understood and several pathogenic mechanisms have been proposed. Timing of the lesion, prenatal or chronic post-natal, or a combination of both are not yet clear. MET...

Classical galactosemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT). More than 200 mutations have been described in the GALT gene. A 5.5-kb GALT deletion, first described in patients of Ashkenazi Jewish ancestry, may lead either to an erroneous genotype assignment of classical galactosemia or to discrepancies w...