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At least 361 records · Page 20Linked to original sources
PubMed2003

A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency.

UNLABELLED: Adult-onset type II citrullinaemia, caused by deficiency of the citrin protein encoded by the SLC25A13 gene, is characterised by a liver-specific argininosuccinate synthetase deficiency. DNA analysis for citrin deficiency revealed that SLC25A13 mutations are the cause of a particular type of neonatal intrahepatic cholestasis. We retrospectively investigated nine infants with cholestatic jaundice of unknown origin, detected by newborn screening over a period of 17 years, to determine the role of SLC25A13 defects in children. The results of the newborn screening were varied; four neonates were positive for hypermethioninaemia, two for hyperphenylalaninaemia, one for hypergalactosaemia and two for both hypermethioninaemia and hypergalactosaemia. Clinical characteristics of the patients were severe intrahepatic cholestasis, hypercitrullinaemia, and fatty liver. The symptoms resolved in all patients by 12 months of age without special treatment other than nutritional management. Although five patients were lost to follow-up, we detected SLC25A13 mutations in the remaining four patients examined. CONCLUSION: the differential diagnosis of cholestatic jaundice of unknown origin in infants should therefore include citrin deficiency. In this paper, we stress the importance of newborn screening to detect infants with neonatal intrahepatic cholestasis caused by citrin deficiency.

Cholestasis, Intrahepatic↗
PubMed1999

Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program.

BACKGROUND: The clinical spectrum of methylmalonic aciduria (MMAuria) ranges from severe, neonatal acidosis to benign asymptomatic organic aciduria. In 1975, screening for MMAuria was established in the province of Quebec. Although newborn screening programs facilitate presymptomatic detection and treatment and also detect asymptomatic variants, uncertainties about potential long-term hazards of mild to moderate elevations of MMA create concern. The objective of this study was to examine the outcome of individuals excreting low to intermediate quantities of MMA, ascertained by a newborn screening program. RESULTS AND STUDY DESIGN: One hundred and thirty-six individuals with elevations of urinary MMA were initially identified by the screening program; 122 individuals were noted to have excretion of urinary MMA <1400 micromol/mmol creatinine. At follow-up assessment at 1 year of age, in 65 of these 122 individuals, the MMA excretion had resolved. Of the remaining individuals, 9 were lost to follow-up, 13 had symptoms, and the remaining 35 were free of symptoms. Among the 35 individuals with asymptomatic persistent MMAuria, MMA excretion has resolved in 13 over 1 year; 22 individuals exhibit persistent low-moderate MMAuria (range, 210 to 1133 micromol/mmol creatinine). CONCLUSION: Follow-up examination of individuals in the latter asymptomatic cohort with persistent low-moderate MMAuria indicates normal somatic and cognitive outcomes.

Adolescent↗
PubMed1991

[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony].

During a five-year-period (1985-1989) 420,000 newborns in Lower Saxony, FRG, were screened for biotinidase deficiency using biotinyl-para-amino-benzoic-acid as substrate. Three newborns with profound biotinidase deficiency (activity 1.1%, 2.1%, 2.3% of mean normal activity level) were detected. Nine newborns had partial biotinidase deficiency (activity 17-26% of mean normal activity level), thus giving an incidence of 1:140,000 with profound, and 1:46,667 with partial biotinidase deficiency, respectively. The infants with profound biotinidase deficiency are treated with biotin (2 x 5 mg/day) from the 3rd, 6th and 8th week of life and have developed normally so far. The children with partial biotinidase deficiency are not treated but followed up closely. The necessity of newborn screening for biotinidase deficiency is stressed.

Amidohydrolases↗
PubMed2005

Clinical effectiveness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program.

CONTEXT: Since the introduction of screening for congenital hypothyroidism (CH) in 1974, the optimal laboratory strategy has been the subject of debate. OBJECTIVE: To assess the clinical effectiveness and cost-effectiveness of various types of thyroxine (T(4))-based strategies to screen for CH. DESIGN, SETTING, AND PARTICIPANTS: In the Netherlands, since January 1, 1995, a primary T(4) determination with supplemental thyroid-stimulating hormone (TSH) and T(4)-binding globulin (TBG) measurements has been used. Results were calculated from cumulative findings for 1181079 children screened between January 1, 1995, and December 31, 2000. MAIN OUTCOME MEASURES: Rates of detection of patients with CH of thyroidal origin (CH-T) or CH of central origin (CH-C), false-positive rates, laboratory costs, and costs of initial diagnostic evaluations. RESULTS: All known infants (n = 393) with CH-T and 92% (n = 66) of infants with CH-C were detected on the basis of low T(4) levels, TSH elevation, and/or low T(4)/TBG ratios. If the decision to refer had been based solely on TSH elevation, then 94% of patients with CH-T and none of the patients with CH-C would have been detected. If low T(4) levels (<or=-3.0 SD) and TSH elevation had been used as the criteria for referral, then the rates of detection would have been 96% for CH-T and 31% for CH-C. The false-positive rates for the 3 approaches were 0.5, 3.3, and 4.7 cases per case detected, respectively. The introduction of the T(4)/TBG ratio into a program using a primary T(4) with supplemental TSH approach generates an extra cost of 11206 dollars per additional case detected. The average costs to detect 1 patient are comparable for the 3 approaches. In addition, our data revealed a substantially greater prevalence of CH-C than reported previously (1 case per 16404 children, compared with earlier estimates of 1 case per 26000 infants to 1 case per 29000 infants). CONCLUSIONS: The T(4) plus TSH plus TBG approach is a recommendable strategy for neonatal CH screening. It offers outstanding detection of patients with CH-C, in addition to those with CH-T, with acceptable costs.

Congenital Hypothyroidism↗