Inborn errors of metabolism in Singapore

Tan, It-Koon; Chio, L F; Loh, F. C.; Wee, Sang-Ouk; Ng, Ivy; Teo, Su Hooi; Yong, Yang; Chan, Diana Xin Hui; Chow, Wan-Cheng; Ho, Pei‐Shen; Lim, K W; A, Goh; Pratibha, A.; Kumar, Praveen; Wong, Yim-han

doi:10.1007/bf00710426

Cited by 3 publications

(4 citation statements)

References 7 publications

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“…Results of screening programs for PKU in mainland China and Taiwan are consistent [Liu and Zuo, 1986;Hsiao, 1992]. Interestingly, the occurrence of PKU in the Chinese in Singapore, who probably originated from southern China, is reputed to be rare, although the actual incidence is unknown [Tan et al, 1995]. Meanwhile, an R413P mutation in the phenylalanine hydroxylase gene, which is caused by a G→C substitution at the second base of codon 413 and leads to classic phenylketonuria, was shown to be carried by a founder effect in the northern Chinese but not the southern Chinese [Wang et al, 1991].…”

Section: Discussionmentioning

confidence: 84%

“…In the Chinese in Singapore, there is probably more occurrence of MPS than organic acidurias and amino acid disorders, although the actual frequencies are not known [Tan et al, 1995]. In order to ascertain a genetic pattern of this group of diseases in Hong Kong, all existing MPS patients should be classified by enzyme analysis.…”

Section: Discussionmentioning

confidence: 99%

“…In Asia, screening programs for common IMD have been carried out in China, India, Japan, Singapore, and Taiwan [Liu and Zuo, 1986;Chen et al, 1989;Rao et al, 1988;Kaur et al, 1994;Tada et al, 1984;Wong, 1978;Hsiao, 1992;Tan et al, 1995]. In the Japanese population, the incidence of maple syrup urine disease (MSUD), phenylketonuria (PKU), and galactosemia are 1/526,000, 1/109,000, and 1/789,000, respectively, the first one similar to, but the last two about ten times lower than in Caucasians [Tada et al, 1984].…”

Section: Introductionmentioning

confidence: 99%

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Biochemical investigation of young hospitalized Chinese children: Results over a 7-year period

et al. 1997

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During the seven years from January 1989 to December 1995, we investigated 2,269 Chinese infants and young children for metabolic disorders in Hong Kong. These young patients, all aged under 4 years and originated from southern China, were ill with no apparent cause and had clinical manifestations suggestive of inherited metabolic diseases. A spot urine and a plasma sample were obtained from each patient for biochemical analysis, including urinary organic acid identification and plasma amino acid analysis. Six cases of mucopolysaccharidosis, four multiple carboxylase deficiency, three 2-methylacetoacetyl CoA thiolase deficiency, two methymalonic aciduria, one glutaric aciduria type I, one glutaric aciduria type II, one a-oxoglutaric aciduria, and one case of orotic aciduria were detected. There were also single suspected cases of medium-chain acyl-CoA dehydrogenase deficiency and isovaleric aciduria. No primary amino acid disorder, such as phenylketouria and maple syrup urine disease, has been detected. Our results suggest that a different pattern of inherited metabolic diseases exists in the southern Chinese when compared with the Chinese in other regions of China.

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Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Biochemical investigation of young hospitalized Chinese children: Results over a 7-year period

et al. 1997

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“…Of the 56 affected patients, 35 (62.5%) were Chinese, 12 (21.4%) were Malays, 5 (8.9%) were Indians and 4 (7.1%) belonged to other ethnic minorities. A high proportion of patients with an IMD (14 of 56 patients or 25.0%) were [38][39][40][41][42] At the end of the 5-year study, few patients referred for investigations provided detailed family history. Therefore, prevalence of consanguinity in patients with IMDs could no longer be studied.…”

Section: (A) Results For the Ministry Of Health (Moh) Studymentioning

confidence: 99%

Study of Inherited Metabolic Disorders in Singapore – 13 Years Experience

Tan

Gajra

Lim

2006

Ann Acad Med Singap

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Introduction: Recommended by the National Advisory Council of the Disabled, the Ministry of Health of Singapore supported a nationwide study of inherited metabolic disorders (IMDs). When the 5-year project ended, investigations were provided as a diagnostic service. This paper documents our 13-year experience. Materials and Methods: Patients with symptoms suggestive of an IMD were referred. Investigations on heparinised blood and/or urine included amino acid analysis using a Beckman 6300 Amino Acid Analyser, organic acids analysis using a Hewlett-Packard gas chromatography and mass spectrometry, mucopolysaccharides quantitative assay and high-resolution electrophoresis, sugars by thin-layer chromatography. Results: Of the 3656 patients studied from 1992 to 2005, IMDs were found in 127 (77 males; 50 females; age range, 1 day to 56 years). Their ethnic distribution was: 55.1% Chinese, 19.7% Malays, 11.0% Indians, 11.0% other races and 3.2% unknown. IMD diagnosed comprised 41 (32.3%) organic acidurias, 34 (26.8%) amino acidaemias/acidurias, 14 (11.0%) urea cycle defects, 15 (11.8%) mucopolysaccharidoses, 6 (4.7%) carbohydrate disorders and 17 (13.4%) others. Twenty-three (18.1%) cases were diagnosed during the neonatal period and 36 (28.3%) after the age of 13. Conclusion: Positive detection rate was 3.5% and 48 IMDs were found. Significant proportion of cases had late-onset IMDs. Early identification of IMDs permits timely management, genetic counselling and prenatal diagnosis.

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Inborn errors of metabolism and expanded newborn screening: review and update

Mak¹,

Lee²,

Chan³

et al. 2013

Critical Reviews in Clinical Laboratory Sciences

157

119

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Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning metabolism and/or the accumulation of toxic intermediate metabolites. To date, more than 1000 different IEM have been identified. While individually rare, the cumulative incidence has been shown to be upwards of 1 in 800. Clinical presentations are protean, complicating diagnostic pathways. IEM are present in all ethnic groups and across every age. Some IEM are amenable to treatment, with promising outcomes. However, high clinical suspicion alone is not sufficient to reduce morbidities and mortalities. In the last decade, due to the advent of tandem mass spectrometry, expanded newborn screening (NBS) has become a mandatory public health strategy in most developed and developing countries. The technology allows inexpensive simultaneous detection of more than 30 different metabolic disorders in one single blood spot specimen at a cost of about USD 10 per baby, with commendable analytical accuracy and precision. The sensitivity and specificity of this method can be up to 99% and 99.995%, respectively, for most amino acid disorders, organic acidemias, and fatty acid oxidation defects. Cost-effectiveness studies have confirmed that the savings achieved through the use of expanded NBS programs are significantly greater than the costs of implementation. The adverse effects of false positive results are negligible in view of the economic health benefits generated by expanded NBS and these could be minimized through increased education, better communication, and improved technologies. Local screening agencies should be given the autonomy to develop their screening programs in order to keep pace with international advancements. The development of biochemical genetics is closely linked with expanded NBS. With ongoing advancements in nanotechnology and molecular genomics, the field of biochemical genetics is still expanding rapidly. The potential of tandem mass spectrometry is extending to cover more disorders. Indeed, the use of genetic markers in T-cell receptor excision circles for severe combined immunodeficiency is one promising example. NBS represents the highest volume of genetic testing. It is more than a test and it warrants systematic healthcare service delivery across the pre-analytical, analytical, and post-analytical phases. There should be a comprehensive reporting system entailing genetic counselling as well as short-term and long-term follow-up. It is essential to integrate existing clinical IEM services with the expanded NBS program to enable close communication between the laboratory, clinicians, and allied health parties. In this review, we will discuss the history of IEM, its clinical presentations in children and adult patients, and its incidence among different ethnicities; the history and recent expansion of NBS, its cost-effectiveness, associated pros and cons, and the ethical issues that can arise; the analytical aspects of tandem...

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Inborn errors of metabolism in Singapore

Cited by 3 publications

References 7 publications

Biochemical investigation of young hospitalized Chinese children: Results over a 7-year period

Biochemical investigation of young hospitalized Chinese children: Results over a 7-year period

Study of Inherited Metabolic Disorders in Singapore – 13 Years Experience

Inborn errors of metabolism and expanded newborn screening: review and update

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