Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “GALACTOSEMIA”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,189 records · Page 66Linked to original sources
PubMed1994

UDP-glucose and UDP-galactose concentrations in cultured skin fibroblasts of patients with classical galactosaemia.

A very clear-cut reduction in UDP-galactose (UDPGal) levels in erythrocytes, skin fibroblasts and liver of patients with classical galactosaemia has been reported. As UDPGal is the galactosyl donor in glycoprotein and glycolipid synthesis, it has been suggested that an abnormality in these complex compounds may be the cause of some of the long-term complications of the disease. More recent work on erythrocytes, employing mainly HPLC rather than the enzyme methods used to measure UDPGal originally, casts doubt on the hypothesis because, although some reduction was still found, there was a large overlap between galactosaemic and normal distributions. We have reproduced the experiments on cultured skin fibroblasts at confluency, but measuring UDPGal and UDP-glucose (UDPGlc) by HPLC. There was no reduction in UDPGal levels in galactosaemic compared to control cell lines. The existence of a biologically significant depletion of UDPGal in galactosaemia remains in doubt.

Cells, Cultured↗
PubMed1993

Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.

An 8-year-old boy with galactose-1-phosphate uridyl transferase (GALT) deficiency presented with hypotonia, muscle hypotrophy, hepatomegaly, bilateral cataract and mild mental retardation. Two brothers showed a GALT activity consistent with a homozygotic condition and both parents were found to be heterozygotes for this defect. Histological and ultrastructural examination of muscle biopsy specimens showed several necrotic fibres. GALT activity was undetectable in skeletal muscle and muscle tissue cultures; myotubes converted galactose to CO2 at a lower rate than controls. Galactose-1-phosphate was increased in the patient's red cells and muscle tissue. GALT deficiency, not previously described in muscle, may be of pathogenic relevance in determining the myopathic features present in GALT deficiency syndrome.

Biopsy↗
PubMed1988

Computer assisted management of a regionalized newborn screening program.

Through the use of an on-line computer system, the regionalized newborn screening program in California has been able to provide overall management, tracking of cases requiring follow-up, laboratory quality control, revenue collection, and the monitoring of program functionality. In addition, the system acts as a tool for research and epidemiological studies.

California↗
PubMed1976

Inborn errors of metabolism: clues to understanding human behavioral disorders.

Detailed behavioral and biochemical investigation of patients with inborn errors of metabolism, especially those intrinsic to the nervous system, may provide many clues to the genetic predisposition underlying human behavioral traits. Relatives of such patients and other individuals with homologous enzymatic lesions due to alleles specifying intermediate activity need to be studied as well. Among the metabolic disorders discussed selectively here, some masquerade as schizophrenia, manic-depressive illness, or hyperactivity syndrome of childhood, providing examples of the striking heterogeneity to be found for these common behavioral disorders.

Adrenal Hyperplasia, Congenital↗
PubMed1994

Abnormal expression of aldose reductase mRNA in fiber cells of cataractous rat lens. Analysis by in situ hybridization.

Aldose reductase (AR), an enzyme of the polyol pathway, has been implicated in the pathogenesis of diabetic and galactosemic cataracts. AR mRNA is a specific transcript of the lens epithelial cells. However, in addition to its presence at high levels in the epithelial cells at the equator, it is also found at significant concentrations in fiber cells at the lens bow. In this study we extended our previous work, and examined the distribution of AR mRNA by in situ hybridization in lens of rats maintained on a 50% galactose diet for up to 20 days, then reversed to a normal diet for an additional 20 days. It was found that within 8 days on galactose the posterior AR mRNA dissipated, with no clear increase in this transcript in the lens epithelial cells. By 16 to 17 days on galactose, the surviving fiber cells in the equatorial region appeared to express AR mRNA; these cells in the normal lens contain insignificant amounts of AR mRNA, as we have previously demonstrated. AR mRNA in the fiber cells of the cataractous lens appears to be of the same base length as that found in the control, indicating that the AR mRNA in these cells may not represent a degraded transcript. Upon reversal of the cataracts, the posterior AR mRNA re-accumulates, and the fiber cells at the equator appear to have lost the AR mRNA that accumulated during the period of exposure to galactose. The data demonstrate that during formation of galactose-cataract, surviving cortical fiber cells express significant levels of AR mRNA, while following withdrawal from galactose these fiber cells lose that activity.

Aldehyde Reductase↗
PubMed1989

Deficit of uridine diphosphate galactose in galactosaemia.

The levels of uridine diphosphate galactose (UDPGal) and uridine diphosphate glucose (UDPGlc) have been determined in liver autopsy samples, erythrocytes and cultured skin fibroblasts from galactosaemic patients and compared to non-galactosaemic controls. In patients with undetectable erythrocyte galactose-1-phosphate uridyltransferase (transferase) activity, the levels of UDPGal were substantially lower than in controls. In patients with detectable transferase activity, even though in less than 1% of normal values, both UDPGal and UDPGlc levels were in the normal range. Incubation of erythrocytes from both galactosaemic patients and normal individuals with 10 mmol/L uridine increased UDPGal and UDPGlc levels several-fold, both in the presence or absence of galactose in the incubation medium. We hypothesize that a deficit of UDPGal is responsible for the late onset clinical manifestations in galactosaemia which include ovarian failure, speech defect and neurological abnormalities. We suggest that uridine administration may be of therapeutic value in raising the intracellular concentrations of UDPGal. We conclude that the transferase reaction, however small in activity, is essential for optimal UDPGal formation.

Cells, Cultured↗
PubMed1996

Incidence and features of galactosaemia in Saudi Arabs.

Over a 12-year period (1983 to 1994), 11 cases of classical galactosaemia were identified in the Saudi Aramco Medical Services Organization (SAMSO). This yields an incidence of 12 cases per 100,000 live births in the Easter Province of Saudi Arabia. A higher proportion of infants presented with infections compared to reports in the literature. Screening for galactosaemia is highly recommended in this high-risk population.

Follow-Up Studies↗
PubMed1989

Prenatal diagnosis of disorders of galactose metabolism.

Of three clinically significant galactose disorders, there is only a real need and experience of prenatal diagnosis in classical galactosaemia. Prenatal diagnosis for this disorder may be carried out by galactose-1-phosphate uridyl transferase assay in cultured amniotic fluid cells or in chorionic villus biopsies and by galactitol estimation in amniotic fluid supernatant. Although the long-term outcome of patients treated on a galactose-restricted diet is recognized to be unsatisfactory, prenatal diagnosis is only rarely performed with a view to terminating the affected pregnancy.

Female↗