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PubMed2005

The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.

The 625G>A variant of the short-chain acyl-CoA dehydrogenase (SCAD) gene is considered to confer susceptibility for developing 'clinical SCAD deficiency' and appears to be common in the general population. To determine the frequency of the 625G>A variant in The Netherlands, we analysed 1036 screening cards of 5- to 8-day-old newborns and found 5.5% homozygous and 31.3% heterozygous for the 625G>A variant. An increased blood/plasma C4-carnitine concentration is considered to be one of the biochemical characteristics of SCAD deficiency. To explore the correlation of C4-carnitine levels with the 625G>A variant, we determined the C4-carnitine concentration, as well as the ratio of C4- to free carnitine, in blood spots from newborns, who were detected as homozygous, heterozygous or noncarriers for the gene variant. No significant differences were found between these groups. Our study demonstrates a high frequency of the 625G>A SCAD gene variant in the Dutch population, but no correlation to significantly increased C4-carnitine levels in blood spots taken between the 5th and 8th days of life. This latter observation might be the result of the relatively late timing of neonatal screening in our country, implying that fatty acid oxidation disorders may be missed at that stage. If the 625G>A variant is associated with clinical SCAD deficiency, the high frequency of the variant suggests a possible involvement of SCAD deficiency in the pathogenesis of common disorders, probably in relation to other genetic and/or environmental factors. However, homozygosity for the 625G>A variant might be only a biochemical phenomenon, representing a 'nondisease'.

Alleles↗

PubMed2003

Three new structural variants of fetal hemoglobin: Hb F-Campinas [Agamma g121(GH4)Glu --> Gln], Hb F-Paulinia [Ggamma 80(EF4)Asp --> Tyr] and Hb F-Joanopolis [Ggamma73(E17) Asp -->Ala].

Three new structural variants of fetal hemoglobin were detected in newborns during a neonatal screening for Hb S in the southeast of Brazil: Hb F-Campinas [AgammaI121 (GH4)Glu --> Gln], Hb F-Paulinia [Ggamma80(EF4)Asp -->Tyr] and Hb F-Joanopolis [Ggamma73(E17) Asp -->Ala]. These variants were not related to clinical abnormalities

Adult↗

PubMed2005

Recently available techniques applicable to genetic problems in the Middle East.

In this paper, we address the preventive health aspects of genetic problems in the Middle East and provide guidelines to prioritize preventive strategies. Applications of various novel genetic techniques such as comprehensive neonatal screening, high throughput heterozygote detection, preimplantation genetic diagnosis, Affymetrix systems, the NanoChip system and a new way of sensitive karyotyping for single-cell chromosome abnormalities are discussed. In conclusion, from the various genetic techniques available, each country should adopt strategies most suitable to its genetic needs and should prioritize the programs to be used in prevention.

Chromosome Aberrations↗

PubMed2001

Outcome of tyrosinaemia type III.

Tyrosinaemia type III is a rare disorder caused by a deficiency of 4-hydroxyphenylpyruvate dioxygenase, the second enzyme in the catabolic pathway of tyrosine. The majority of the nine previously reported patients have presented with neurological symptoms after the neonatal period, while others detected by neonatal screening have been asymptomatic. All have had normal liver and renal function and none has skin or eye abnormalities. A further four patients with tyrosinaemia type III are described. It is not clear whether a strict low tyrosine diet alters the natural history of tyrosinaemia type III, although there remains a suspicion that treatment may be important, at least in infancy.

4-Hydroxyphenylpyruvate Dioxygenase↗

PubMed2007

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

Glutaryl-CoA dehydrogenase (GCDH) deficiency is an autosomal recessive disease with an estimated overall prevalence of 1 in 100 000 newborns. Biochemically, the disease is characterized by accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine, which can be detected by gas chromatography-mass spectrometry of organic acids or tandem mass spectrometry of acylcarnitines. Clinically, the disease course is usually determined by acute encephalopathic crises precipitated by infectious diseases, immunizations, and surgery during infancy or childhood. The characteristic neurological sequel is acute striatal injury and, subsequently, dystonia. During the last three decades attempts have been made to establish and optimize therapy for GCDH deficiency. Maintenance treatment consisting of a diet combined with oral supplementation of L: -carnitine, and an intensified emergency treatment during acute episodes of intercurrent illness have been applied to the majority of patients. This treatment strategy has significantly reduced the frequency of acute encephalopathic crises in early-diagnosed patients. Therefore, GCDH deficiency is now considered to be a treatable condition. However, significant differences exist in the diagnostic procedure and management of affected patients so that there is a wide variation of the outcome, in particular of pre-symptomatically diagnosed patients. At this time of rapid expansion of neonatal screening for GCDH deficiency, the major aim of this guideline is to re-assess the common practice and to formulate recommendations for diagnosis and management of GCDH deficiency based on the best available evidence.

Child↗

PubMed2005

Screening for hip abnormality in the neonate.

Clinical screening policies for the detection of hip instability or dysplasia of the hip vary internationally. There is general agreement in the Western world that at birth all hip joints should be clinically assessed by the Ortolani and Barlow tests. Currently, there is no consistency regarding who should undertake the examination, the results being worse when inexperienced personnel are used. These clinical tests have poor sensitivity and should be regarded as surveillance, not screening methods. Since the 1980s ultrasonographic assessment of the hip has become a valuable diagnostic tool. However there is continuing controversy on whether this imaging method should be used universally or selectively for 'at risk' and clinically unstable hip joints. Universal ultrasonographic evaluation may result in over-treatment and selective screening may be no better than the best clinical screening programs in reducing the incidence of 'late' irreducible dislocation of the hip. It is generally accepted that all clinically unstable hips should be imaged by ultrasound by static and dynamic methods in order to confirm the diagnosis and to monitor treatment.

Hip Joint↗

PubMed2005

Diagnosis of congenital toxoplasmosis by two-dimensional immunoblot differentiation of mother and child immunoglobulin g profiles.

Differentiation between the specific immunoglobulin G (IgG) response to Toxoplasma gondii by a mother and her newborn child is helpful in the diagnosis of congenital infection with T. gondii in newborns without T. gondii-specific IgM and/or IgA antibodies at birth. Previous methods include immunoblotting and complexing T. gondii antigen with the sera from the mother and child and comparing the bands after electrophoresis. We developed a two-dimensional immunoblotting (2DIB) method with T. gondii RH strain tachyzoite antigen and validated the method with sera from 11 children identified through the neonatal screening program for congenital toxoplasmosis in Denmark. The children were identified by using Toxoplasma-specific IgM antibodies at the screening test, but the presence of T. gondii-specific IgM and/or IgA antibodies could not be confirmed at the subsequent serum sample tested. The children were monitored for at least 12 months, and in seven of eight patients monitored for 12 months the results of the 2DIB-predicted congenital infection were confirmed by the presence of persistent Toxoplasma-specific IgG antibodies. 2DIB is a sensitive technique that allows early differentiation between passively transferred maternal T. gondii-specific IgG antibodies and antibodies synthesized by the newborn child.

Animals↗

PubMed1998

Instrumentation for transient evoked otoacoustic emissions elicited by maximum length sequences.

A system for recording Transient Evoked Otoacoustic Emissions (TEOAE) for neonatal screening, utilizing Maximum Length Sequences (MLS) for the generation of stimulus signals, is described. The main advantage of the system is its ability to obtain responses within a very short period of time, compared to conventional OAE systems. The actual recording time for the MLS system is reduced by a factor of between 10 and 20 for comparable signal-to-noise ratios. Stimulus levels range from 50 to 90 dB peak equivalent SPL and available stimulus rates are 31, 62, 125, 250, 500, 1000 and 2000/sec. A dynamic noise rejection algorithm is performed during data collection, and, moreover, all sweeps (both accepted and rejected) are stored in memory so that the signal-to-noise ratio can be optimized by post-processing immediately after data collection. As a result, robust response can be achieved even if the subject is noisy during the test. A new semi-non-linear recording technique is described, combining the benefits from the conventional linear and non-linear recording methods. Examples of adult and neonatal responses under different conditions are provided to demonstrate the value of the recording principle.

Cochlea↗

PubMed2003

Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

The conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA is the only step in leucine catametabolism yet to be characterized at enzyme and DNA levels. The deficiency of the putative mitochondrial enzyme 3-methylglutaconyl-CoA hydratase associates with the rare organic aciduria 3-methylglutaconic aciduria type I (MGA1), but neither the enzyme nor its gene have been described in any organism. Here we report that human 3-methylglutaconyl-CoA hydratase is identical with a previously described RNA-binding protein (designated AUH) possessing enoyl-CoA hydratase activity. Molecular analyses in five patients from four independent families revealed homozygosity or compound heterozygosity for mutations in the AUH gene; most mutations are predicted to completely abolish protein function. Mutations identified include c.80delG, R197X, IVS8-1G>A, A240V, and c.613_614insA. Clinical severity of MGA1 in published patients has been quite variable. Included in the present study is an additional patient with MGA1 who was detected by neonatal screening and has remained asymptomatic up to his present age of 2 years. The boy is homozygous for an N-terminal frameshift mutation in the AUH gene. Complete absence of 3-methylglutaconyl-CoA hydratase/AUH appears to be compatible with normal development in some cases. Further work is required to identify external or genetic factors associated with development of clinical problems in patients with MGA1.

Amino Acid Metabolism, Inborn Errors↗

PubMed2004

Recent developments in meconium and hair testing methods for the confirmation of gestational exposures to alcohol and tobacco smoke.

The use of alcohol and tobacco is prevalent among pregnant women despite the well-known adverse effects of these substances imposed on the developing fetus and immense public health education efforts. Confirmation of gestational exposures to these compounds have relied mostly on maternal self-reporting, which is often underestimated because of guilt, embarrassment, and fear of punitive action. The presence of fatty acid ethyl esters in various biological matrices as a result of alcohol consumption initiated the development of neonatal screening tests for these emerging biological markers in meconium and hair. The levels of nicotine and cotinine in hair have long been used as objective indices for the quantification of exposure to active and passive smoking. Maternal segmental hair analysis in the study of pharmacokinetic changes in nicotine metabolism in the obstetric population is a novel application of this traditional analytical method. The latest developments and novel applications of meconium and hair testing for the confirmation of prenatal alcohol and tobacco exposure are discussed in this review.

Alcohol Drinking↗

PubMed2002

[Management of children with sickle cell anemia: a collaborative work].

Treatment of children with sickle cell disease has been impressively improved during recent years. Neonatal screening is now generalized to all continental France. Coupled with parents' education and a comprehensive care program, it allows a reduction of pneumococcal infections, and of the mortality related to splenic sequenstration, the occurrence of cerebrovascular accidents being also reduced by the use of transcranial Doppler ultrasonography. However, to be effective these measures require a close collaboration not only between parents and the medical team but frequently also between the medical team and social workers, as many affected children living in France are born from first generation African migrants, for whom it may be difficult to understand and/or to apply the care program.

Anemia, Sickle Cell↗

PubMed1990

[Comparative study of psychometric results of 2 french speaking populations with hypothyroidism detected at birth].

The authors compare the data from the psychological assessment of a cohort of 191 French speaking hypothyroid children detected by neonatal screening: 99 were followed in Quebec and 92 in Lille, according to two independent programs. Three age levels were selected: 12-18 months, 5 and 7 years. Data were similar and, in both studies, results of the later ages were slightly lower than the norms of the tests or results obtained in control groups. In both populations correlations were found between some results and two factors related to hypothyroidism: delayed bone surface development and thyroxinemia at the time of diagnosis. On the other hand, etiology and time of treatment had no repercussions on any group results.

Bone Development↗

PubMedDate not supplied

The effect of neonatal universal hearing screening in a health surveillance perspective--a controlled study of two health authority districts.

The contribution describes the effect of a neonatal hearing screening program in terms of estimated prevalence rate of congenital hearing impairment and age at identification in two five-year cohorts born between 1990 and 1994 as a function of health authority districts (HADs). In addition, identically defined five-year birth cohorts from 1970 to 1974 and 1980 to 1984 living in the same HADs evaluated previously are used in the analysis, offering longitudinal data. In 1990 a non-targetted neonatal hearing screening program based on EOAE was introduced in the County-HAD, whereas the City-HAD continued its child hearing health surveillance program unchanged. Assuming an unchanged prevalence estimate of 1.5 per 1000 of congenital or early acquired (i.e. neonatal period) hearing disability, i.e. > or = 25 dB HL for the better ear at 0.5-4 kHz in both HADs, an underestimate of 68 per cent in the City and of 20 per cent in the County, respectively, was found at the time of data collection (January 1995). Significant longitudinal improvements in the early identification from the 1970-1974 cohort compared to the 1980-1984 cohort has been demonstrated, but the improvement in the proportion of children identified as a function of both 6 and 12 months of age in the 1990-1994 cohort is significantly greater, showing a median age at identification of 11 months in the County-HAD. The cross-sectional and longitudinal comparisons between the HADs imply that a neonatal universal hearing screening program with a 20 per cent coverage may add significantly to the early identification of children with early-onset hearing impairment.

Cohort Studies↗

PubMed2000

Two new Ggamma chain variants: Hb F-clamart [gamma17(A14)Lys-->Asn] and Hb F-Ouled Rabah [gamma19(B1)Asn-->Lys].

Two new fetal hemoglobin variants affecting the Ggamma chain are reported. Hb F-Clamart was found during investigation of a French newborn who presented with a mild microcytemia. The second variant was found during neonatal screening for hemoglobinopathies of 30,000 babies from a population-at-risk living in the Paris region. It was named Hb F-Ouled Rabah because its structural modification and ethnic distribution is similar to that of Hb D-Ouled Rabah [beta19(B1)Asn-->Lys]. Hb F-Ouled Rabah is clinically silent and occurs at a frequency of ca. 0.1% in newborns originating from Maghreb. Structural characterization of both variants was done by protein chemistry methods, including amino acids analysis and mass spectrometry.

Africa, Northern↗

PubMed1992

Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy.

To date, two variants of argininosuccinic acid lyase deficiency, the second most common enzymatic defect of the urea cycle, have been described. Most of the previous studies reported on outcomes involving neurological and intellectual impairment in affected children. This study is the first to demonstrate that the physical and mental development of such children can be normal and adequate for their age if they are treated with a low-protein diet and/or arginine supplements. Since 1973, 12 Austrian children suffering from argininosuccinic acid lyase deficiency have been detected in the Austrian Neonates Screening Program and could have been followed up. After confirmation of diagnosis, all the children were administered a daily arginine supplement (3 to 4 mmol/kg per day) in conjunction with either a normal diet or a special diet in which protein intake was restricted to 1.2 to 1.5 g/kg per day. Routine checks, including physical examination, determination of biochemical parameters, and IQ tests, were performed so the further development of these 12 patients with respect to treatment could be observed. It can be concluded that early treatment of partial argininosuccinic acid lyase deficiency results in normal intellectual and psychomotor development.

Amino Acid Metabolism, Inborn Errors↗

PubMed2003

Suppression of TSH in congenital hypothyroidism is significantly related to serum levels and dosage of thyroxine.

AIM: To assess thyrotropin (thyroid-stimulating hormone; TSH) suppression and serum thyroxine (T(4)) concentrations in infants with congenital hypothyroidism in relation to T(4) dose and pretreatment parameters. METHOD: A retrospective study of all cases treated in a single centre since neonatal screening began was performed. RESULTS: In 54 infants treated with a mean daily T(4) dose of 9.8 microg/kg, the TSH concentration was suppressed (<6 mU/l) in 65% of the cases by 6 months with the serum T(4) level at the upper end of the infant reference range. Infants who suppressed their TSH later did not differ in pretreatment serum TSH or T(4) concentration. T(4) dose and serum T(4) level were lower in infants whose TSH was not suppressed. CONCLUSIONS: TSH suppression in congenital hypothyroidism is significantly related to serum levels and dosage of T(4). We suggest that a delay in TSH suppression is mainly due to undertreatment.

Aging↗

PubMed1994

[The association between hypothyroidism and other congenital defects. The experience of the National Registry in 1987-1992].

This study considers the birth defects (BD) observed from 1987 to 1992 in 35/811 newborns with congenital hypothyroidism (CH) diagnosed by neonatal screening and included in the National Register. The BD incidence was higher than in the general population (4.3 vs 2.5-3%) and especially the one of the congenital heart diseases, (CHD) (2.1 vs 0.3-0.8%). Furthermore the CHD were more frequently observed in females than in males (M/F = 1/4.7). These results seem not to be casual but the reasons remain unknown. The most frequent CHD observed were the septal defects and the pulmonary stenosis. Further are presented and discussed the main findings of 2 groups of CH patients (with and without BD). These results are a good instance of the National Register applications, also for less known aspects of the CH like the concomitant BD.

Congenital Abnormalities↗

PubMed1996

Congenital hypothyroidism: increased incidence in Najran province, Saudi Arabia.

Neonatal screening for congenital hypothyroidism using cord serum thyroid-stimulating hormone (TSH) was initiated in Najran health region in September 1990. A total of 30810 newborn infants were screened by April 1995. Of the 24 infants with abnormal thyroid function tests on recall, 22 had permanent primary congenital hypothyroidism (incidence; 1:1400) and in two male siblings transient congenital hypothyroidism (incidence; 1:15400) was proved on follow-up. There was a significantly higher incidence of dyshormonogenesis. Eight (57 per cent) of the 14 infants who were adequately studied thyroid scan revealed ectopic glands with increased 99mTc uptake, while thyroid ectopy and aplasia were present only in three (22 per cent) infants each. Furthermore, goiter was evident clinically in two other patients.

Congenital Hypothyroidism↗