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PubMed2001

Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD).

Advances in technology provide new challenges to public health to implement screening programs that are effective, cost-efficient, and available to all infants regardless of ability to pay. The Newborn Metabolic Disorder Screening Program (NMDSP) of the Oklahoma State Department of Health is evaluating the expansion of newborn screening for the disorders of cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD) to the current screening battery of disorders (phenylketonuria, congenital hypothyroidism, galactosemia, and sickle cell disease). The challenge is to offer these new screening tests in a cost-efficient manner that ensures all newborns have access to screening and that an infrastructure exists to diagnose and provide the specialized comprehensive care affected infants will require to reduce the morbidity, mortality, and disability associated with these disorders. Essential components of an effective newborn screening system include the smooth integration of sample collection, laboratory testing, follow-up, diagnosis, timely treatment, and tracking components. The NMDSP has recommended that screening should be expanded, but issues of cost and the establishment of a sustainable infrastructure of comprehensive medical services must be addressed.

Acyl-CoA Dehydrogenase↗

PubMed1999

Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.

We had studied inherited metabolic disorders at the Department of Pediatrics, Siriraj Hospital Faculty of Medicine, Mahidol University since 1987 using limited resources available and collaboration with other laboratories, both in Thailand and The United States. Since April 1998, we started a collaboration with MILS and Kanazawa Medical University, the Japan, studying inborn errors of metabolism in Asian Countries using urine filter paper and a new GC/MS method. We have since successfully discovered several patients with metabolic disorders. Out of 33 (high-risk) cases we sent for biochemical diagnosis (during April-July 1998), 13 abnormal results were found which is approximately 39.4%. Inherited metabolic disorders identified were as follows: medium-chain acyl CoA dehydrogenase deficiency (MCAD), multiple carboxylase deficiency (MCD), methylmalonic acidemia (MMA), Fanconi syndrome, galactosemia and neuroblastoma.

Female↗

PubMedDate not supplied

[Clinical effectiveness of the therapeutic nutrition of sick children using enteral feeding preparations and low-lactose mixtures].

The paper concerns the results of clinical trials of new specialized foods--protein, defatted and fat enpits as well as low lactose milk mixtures, which were used in dietotherapy of sick children with different disease entities (hypothrophy, bronchopulmonary abnormalities, emaciation pre- and postoperatively, mucoviscidosis, Laurence-Moon-Bardte-Biedle's syndrome, Marfan's syndrome, galactosemia, lactase deficiency). The diets including new therapeutic foods were shown to exert high therapeutic effects, that gave grounds for the methodological recommendations for using them in pediatrics to be given.

Body Weight↗

PubMed2002

[Screening of newborns for inborn errors of metabolism by tandem mass spectrometry].

Tandem mass spectrometry is an analytical method which is being implemented for neonatal screening. The method can determine the content of amino acids and acylcarnitines in neonatal screening samples in one integrated analysis. This allows detection of more than 20 inherited disorders of amino acid, fatty acid and organic acid metabolism. The aggregate incidence of these disorders is in the order of 1:4000. The principal disease which is detectable is medium-chain acyl-CoA dehydrogenase deficiency, which has an incidence of 1:10,000-1:20,000 in Northern Europe. Medium-chain acyl-CoA dehydrogenase deficiency puts the affected at risk of life-threatening metabolic crises, which are preventable if the condition has been diagnosed. Hence, the prognosis is excellent. The central theme for therapeutic management of medium-chain acyl-CoA dehydrogenase deficiency is carbohydrate supplementation, especially in situations of intercurrent illness. Tandem mass spectrometry screening will also enhance the present screening for phenylketonuria which employs a bacterial assay: the screening sample can be obtained 48-72 hours post partum, the false-positive rate will be reduced, and there will be no interference with antibiotics. Tandem mass spectrometry is being used in state-mandated screening panels in a few places and is being tested in pilot studies in many other places. A national prospective pilot project was launched on February 1, 2002 in Denmark. The project includes tandem mass spectrometry screening for galactosemia. In addition to neonatal screening, tandem mass spectrometry can be used for investigation of metabolic diseases, sudden unexpected death of infancy and shaken baby syndrome. Critical appraisal of tandem mass spectrometry will lead to improved health for infants affected by rare inherited disorders of metabolism.

Acyl-CoA Dehydrogenases↗

PubMed2002

Newborn screening: an overview.

The ethical considerations and the criteria for inclusion of a test to a newborn screening program have remained constant since testing began in the 1960s. Does the test identify a treatable disorder with significant incidence to pose a public health risk and warrant testing all babies in that state or territory? Technological advances in testing, particularly with the improvement of tandem mass spectrometry techniques and the advent of DNA testing for the specific gene mutations, have expanded our understanding of many inherited metabolic diseases. These mostly autosomal recessive disorders went under-diagnosed by the medical community for many years. This was partly due to the notion that the incidence of inherited metabolic diseases was quite rare and that many so-called birth defects, or unexplained infant deaths, were not associated with any known metabolic disorders. Public health departments, as part of their newborn health programs, offer some newborn screening to all infants born within their jurisdiction. Two tests, those for phenylketonuria (PKU) and congenital hypothyroidism are universally mandated (51/51 juristictions). The next highest frequency tests are for galactosemia and sickle cell disease (50/51), with up to thirty tests available in some states. However, the authority as to which tests are included resides with the local state government, either as a matter of law or as a matter for the public health department. As these matters become more complex, many public health officials and pediatric healthcare practitioners urge the Federal government to become involved and develop national guidelines in an effort to streamline the process and decrease the existing inconsistencies between states. For many laboratorians, the collection of newborn screening blood spot samples is the extent of their involvement in newborn screening programs. The many facets of these programs, the status of newborn screening in the United States, and the incidence and description of selected inherited disorders are explored.

Blood Specimen Collection↗

PubMed2003

[Pregnancy and inborn errors of metabolism].

Increasing number of patients with inborn errors of metabolism (IEM) are now reaching adulthood and are in position to reproduce. Because of the rarity of individual disorders our knowledge of risks factors associated with pregnancy is limited. Obstetrics problems in IEM can be divided into two categories: pregnancy effects on maternal metabolic disorders and relation between mother and fetus related to who of them is affected. Detrimental effects upon the fetus may be directly caused by maternal disease, as it occurs in PKU, or indirectly by maternal supplementation with harmful substrate, as occurs in galactosemia. Less commonly, fetal inborn error of metabolism may affect the mother's health. Pregnancies in which the fetus had long-chain hydroxyacyl-CoA dehydrogenase deficiency have been complicated by life-threatening HELLP syndrome (haemolysis, elevated liver enzymes and low platelets) or AFL (acute fatty liver of pregnancy) during third trimester. The management of labor and the postpartum period (for women and newborns) has to be carefully planned to avoid significant metabolic decompensation.

Female↗

PubMed1959

Preventive aspects of mental retardation.

Estimates of the incidence of mental retardation vary from 1 to 3 per cent of the population. Prevention of this disability requires different methods, depending on the cause. Retarded persons are of four broad categories: Those who are the low end of the normal distribution curve of intelligence in the general population, without any specific illness or defect; those in whom retardation is culturally and socially determined; those who are functionally retarded due to emotional disorder; and those with damage of the brain structure. More flexibility is required within our relatively complex society so that dull people can adapt themselves, achieve acceptance, and find a vocation within their range of ability. There is need for improved services for the early diagnosis and treatment of emotional disturbances in children, and for counselling with parents of slow learning children to make the family climate as favorable as possible. Certain diseases which cause organic defects in the brain are now sufficiently well understood to make possible the prevention of mental retardation in persons with these diseases-cretinism and congenital syphilis among them. More recently, an increasing emphasis on the preventive approach to mental retardation has been made possible through our understanding of the effects of German measles in early pregnancy, knowledge of such metabolic errors as phenylketonuria and galactosemia, of kernicterus caused by Rh incompatibility between mother and child, as well as by our increased knowledge of human genetics.

Achievement↗

PubMed1992

[25 years Austrian screening program for inborn errors of metabolism at the Vienna University].

The results are presented by the Austrian screening program for inborn errors of metabolism, which is one of the oldest and most comprehensive in the world. At present, the program comprises screening for the following diseases: phenylketonuria, galactosemia, homocystinuria, maple syrup urine disease, hypothyroidism, biotinidase deficiency. The results of the program with regard to diagnosed cases are presented: in total, 747 carriers of various inborn errors of metabolism have been detected by means of the Screening Program and were referred for therapy where appropriate.

Austria↗

PubMed2003

Expanding metabolic screening of newborns: can the health care industry do better than public health?

In Oklahoma since the early 1990s, all newborns have been screened for four metabolic conditions: phenylketonuria, hypothyroidism, galactosemia and hemoglobinopathies. In 2002, 38 affected babies were diagnosed and one expects they are saved from the complications of late diagnosis such as mental retardation or death from sepsis. With advances in genetics and improved biochemical assays, 86% of states now screen for more disorders than Oklahoma, up to 37 in Mississippi. Six recent patient vignettes illustrate the mortality and morbidity of conditions that are screened for elsewhere but not in Oklahoma. In 2001, the Oklahoma Genetics Advisory Council recommended adding three disorders and the State Health Department forecasts that implementation may be complete in 2007. For now, when a patient asks, "Will my baby be screened for as many metabolic conditions as possible?", two answers represent either the public health or the private health care view. The public health answer is, "The state requires screening for four conditions." The health care system answer is, "We can work with you to get 44 conditions tested for, but it will cost money, may not be reimbursed, and has not been proven effective when done on an individual basis." This dilemma, not unique to newborn screening, might be resolved if professional and public opinion strongly supported early expansion.

Delivery of Health Care↗

PubMedDate not supplied

13C-breath tests in hepatology (cytosolic liver function).

13C-phenylalanine (PheBT) and 13C-galactose breath tests (GBT) explore non invasively the hepatic functional mass by measuring two enzymatic activities localized into the cytosol of liver cells: the phenylalanine hydroxylase (which converts phenylalanine into tyrosine) and the galactose kinase (which catalyzes the ATP-dependent phosphorylation of galactose to galactose 1-phosphate). Both BTs are safe and accurate in predicting the severity of liver cirrhosis showing a good correlation with the Child-Pugh score. PheBT is also used in predicting postoperative complications and monitoring liver regeneration in patients undergoing partial hepatectomy. GBT has been also used to assess liver fibrosis in patients with chronic hepatitis C. PheBT and GBT could be used in the diagnosis of two inborn errors of metabolism, phenylketonuria and galactosemia, respectively. Both BTs are not affected by enzymatic induction due to drugs which may interfere with the results of the classic "microsomial" BTs (such as the aminopyrine or caffeine BTs).

Breath Tests↗

PubMed2004

Ursodeoxycholic acid-augmented hepatobiliary scintigraphy in the evaluation of neonatal jaundice.

UNLABELLED: Early differentiation of extrahepatic biliary atresia from intrahepatic cholestasis is important. Hepatobiliary scintigraphy is an excellent noninvasive investigation for ruling out extrahepatic biliary atresia. This study aimed at identifying the role of ursodeoxycholic acid (UDCA), a choleretic agent, in conjunction with hepatobiliary scintigraphy in differentiating extrahepatic biliary atresia from neonatal hepatitis. METHODS: Fifty-one infants (42 male, 9 female) aged 0.3-5.5 mo (mean, 2.9 mo) presenting with neonatal jaundice underwent 99mTc-mebrofenin hepatobiliary scintigraphy. For patients who did not show any excretion of tracer into the intestine till 24 h, the study was repeated after oral administration of UDCA (20 mg/kg every 12 h) for 48-72 h. Ultrasonography and, if required, liver biopsy and intraoperative cholangiography were used with clinical data such as stool color and serologic and other etiologic investigations to form a final diagnosis. RESULTS: Of 51 patients, 19 showed biliary excretion in the first study, ruling out extrahepatic biliary atresia. Neonatal hepatitis was the final diagnosis in these. Of the remaining 32 patients, 12 nonexcretors converted to excretors after UDCA treatment, whereas 20 still showed no biliary drainage. Four nonexcretors on scintigraphy had a final diagnosis of neonatal hepatitis with galactosemia; the remaining 16 had extrahepatic biliary atresia. The specificity of hepatobiliary scintigraphy in ruling out extrahepatic biliary atresia improved from 54.3% to 88.6% (P < 0.001) after UDCA treatment. None of the patients experienced any ill effects from UDCA administration. CONCLUSION: Pretreatment with UDCA significantly improves the specificity of hepatobiliary scintigraphy in ruling out extrahepatic biliary atresia as a cause of prolonged neonatal jaundice.

Administration, Oral↗

PubMedDate not supplied

[The specificity of surgery of congenital cataract with implantation of folding "Acrysof" IOL in children].

Described in the paper are the results of surgical treatment of 25 children (37 eyes), aged 3 months to 12 years, with congenital and secondary cataracts. The treatment schemes were based on new technologies including tunnel incisions, continuous round anterior capsulorhexis and aspiration-irrigation as well as implantation of different-model posterior-chamber flexible "Acrysof' IOLs into the capsular sac or ciliary sulcus. A high treatment efficiency as well as a need in a differentiated approach to choosing an IOL fixation, diameter and technique of anterior capsulorhexis and a model of the implanted "Acrysof' IOL made with respect to individual age and clinical peculiarities of eyes of children with congenital cataracts as well as with respect to a potential general somatic pathology (galactosemia) are demonstrated.

Acrylic Resins↗

PubMed2003

Newborn screening in Japan.

In the 1970's, the government began to take steps for the treatment of congenital diseases. Mass newborn screening was started in October 1977 throughout Japan in order to detect five inborn errors of metabolism including phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia, and galactosemia. In 1979, mass screening for congenital hypothyroidism was added to the original program. In 1989, screening for congenital adrenal hyperplasia was added and in 1992, screening of histidinemia was discontinued. Currently, screening covers six diseases. The government paid half the cost of screening tests initially and in 2001 this was raised to the full cost (approximately 3000 yen). Parents pay for sample collection. The program is carried out according to law. A new activity involving screening for Wilson disease now necessitates taking dried blood specimens from children 1-3 years old.

Blood Specimen Collection↗

PubMed2003

Neonatal screening and monitoring system in Taiwan.

Neonatal screening in Taiwan started as a pilot program in 1981. The coverage rate increased to 90% in 1990, and is currently more than 99%. Five diseases are covered in the screening program including congenital hypothyroidism, phenylketonuria, homocystinuria, galactosemia, and glucose-6-phosphate dehydrogenase deficiency. A monitoring system was established at the same time to ensure correct diagnosis and treatment for positive cases. Neonatal screening is not compulsory by law in Taiwan, but the government is very concerned about it. New tests for neonatal screening have recently been included as pilot programs. Parents of the newborns have to pay for these tests, for which informed consent has to be given. These additional tests include screening for congenital adrenal hyperplasia and tandem mass screening. The results of these pilot programs will be offered to the government for policy decision-making in the future.

Congenital Hypothyroidism↗

PubMed2005

Breast is best for babies.

Breastfeeding is the optimal method of infant feeding. Breast milk provides almost all the necessary nutrients, growth factors and immunological components a healthy term infant needs, Other advantages of breastfeeding include reduction of incidences and severity of infections; prevention of allergies; possible enhancement of cognitive development; and prevention of obesity, hypertension and insulin-dependent diabetes mellitus. Health gains for breastfeeding mothers include lactation amenorrhea, early involution of the uterus, enhanced bonding between the mother and the infant, and reduction in incidence of ovarian and breast cancer. From the economic perspective, breastfeeding is less expensive than formula feeding. In most cases, maternal ingestion of medications and maternal infections are not contraindications to breastfeeding. Breastfeeding, however, is contraindicated in infants with galactosemia. The management of common breastfeeding issues, such as breast engorgement, sore nipples, mastitis and insufficient milk, is discussed. Breastfeeding should be initiated as soon after delivery as possible. To promote, protect and support breastfeeding, the World Health Organization (WHO) and the United Nations Children's Fund (UNICEF) developed the Baby-Friendly Hospital Initiative (BFHI) 10 Steps to Successful Breastfeeding. Healthcare professionals have an important role to play in promoting and protecting breastfeeding.

Breast Feeding↗

PubMed1992

[The Fanconi-Bickel syndrome: one more case].

The association of de Toni-Debré-Fanconi syndrome with alteration of galactose metabolism and glycogen hepatic storage, before further clarification, is defined as Fanconi-Bickel syndrome. The Authors present a case in which the alterations in galactose metabolism typically do not affect the enzymes responsible for galactosemia. In such patients a recognised enzymatic defect glycogenosis is not involved and glycogen storage in the liver can be a secondary phenomenon, which can increase, differing according to each subject. Liver biopsy to detect storage can be avoided when all the other diagnostic criteria are observed.

Child, Preschool↗

PubMed2006

[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency].

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a kind of inborn errors of metabolism, with the main clinic manifestations of jaundice, hepatomegaly, and abnormal liver function indices. As a mitochondrial solute carrier protein, citrin plays important roles in aerobic glycolysis, gluconeogenesis, urea cycle, and protein and nucleotide syntheses. Therefore citrin deficiency causes various and complicated metabolic disturbances, such as hypoglycemia, hyperlactic acidemia, hyperammonemia, hypoproteinemia, hyperlipidemia, and galactosemia. This paper reported a case of NICCD confirmed by mutation analysis of SLC25A13, the gene encoding citrin. The baby (male, 6 months old) was referred to the First Affiliated Hospital with the complaint of jaundice of the skin and sclera, which it had suffered from for nearly 6 months. Physical examination showed obvious jaundice and a palpable liver 5 cm below the right subcostal margin. Liver function tests revealed elevated enzymatic activities, like GGT, ALP, AST, and ALT, together with increased levels of TBA, bilirubin (especially conjugated bilirubin), and decreased levels of total protein/albumin and fibrinogen. Blood levels of ammonia, lactate, cholesterol, and triglyceride were also increased, and in particular, the serum AFP level reached 319,225.70 microg/L, a extremely elevated value that has rarely been found in practice before. Tandem mass analysis of a dried blood sample revealed increased levels of free fatty acids and tyrosine, methionine, citrulline, and threonine as well. UP-GC-MS analysis of the urine sample showed elevated galactose and galactitol. The baby was thus diagnosed with suspected NICCD based on the findings. It was then treated with oral arginine and multiple vitamins (including fat-soluble vitamins A, D, E, and K), and was fed with lactose-free and medium-chain fatty acids enriched formula instead of breast feeding. After half a month of treatment, the jaundice disappeared, and the laboratory findings, including liver function indices, blood levels of ammonia, lactate and AFP, were returned to normal level. The baby was followed up for 6 months. It developed well, and the abnormal laboratory findings, including MS-MS and UP-GC-MS analysis results, have been corrected, except a slightly elevated lactate level sometimes. SLC25A13 gene mutation analysis for the patient revealed a compound heterozygote of mutation 851del4 and 1638ins23 and therefore NICCD was definitely diagnosed.

Calcium-Binding Proteins↗

PubMedDate not supplied

[Cryptogenic hepatic cirrhosis in a 14 years old boy].

Alcoholism is the main etiological factor of hepatic cirrhosis among adults whereas among children the following pathologies lead to hepatic cirrhosis: bile ducts disease (atresia or hypoplasia of bile ducts, progressive familial intrahepatic cholestasis), metabolic disorders (tyrosinemia, hemochromatosis, galactosemia, alpha1 - antitrypsin deficiency, Wilson's disease), chronic viral hepatitis B, delta, C, autoimmune hepatitis. Despite the availability of modern diagnostic methods scanty clinical symptomatology may be a cause of late diagnosis, often in the stage of complications. Presented case of a 14 years old boy is an example of late diagnosis of cryptogenic hepatic cirrhosis.

Adolescent↗