Displaying publications 1 - 20 of 30 in total

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  1. Yahya NA, Ismail Z, Embong KH, Mohamad SA
    PMID: 8629091
    High performance liquid chromatography (HPLC) with phenylisothiocyanate (PITC) is recently used for confirming the diagnosis of inborn errors of metabolism (IEM) especially amino acid disorders in Malaysian children. The method of HPLC used is a precolumn derivatization of amino acids with phenylisothiocyanate and is separated by reversed phase chromatography using 3.9 x 300 mm free amino acid columns and is detected by a UV/Vis detector. The samples are obtained from cases suspected of inborn errors of metabolism, especially of amino acid disorders, which are detected clinically by pediatricians. Initially, samples from patients suspected of inborn errors of metabolism, either urine or serum, are run on one-dimensional thin layer chromatography and supplementary chemical tests to detect the abnormal bands and associated abnormalities respectively. Positive samples are further run on HPLC to determine the specific amino acids abnormality. An examples of a case of maple syrup urine disease is discussed, based on the thin layer chromatography findings and HPLC findings.
    Matched MeSH terms: Amino Acid Metabolism, Inborn Errors/blood; Amino Acid Metabolism, Inborn Errors/diagnosis*; Amino Acid Metabolism, Inborn Errors/urine; Metabolism, Inborn Errors/blood; Metabolism, Inborn Errors/diagnosis*; Metabolism, Inborn Errors/urine
  2. Al-Mayouf SM, Alreefi HA, Alsinan TA, AlSalmi G, AlRowais A, Al-Herz W, et al.
    Mod Rheumatol, 2021 Nov;31(6):1171-1178.
    PMID: 33563058 DOI: 10.1080/14397595.2021.1886627
    OBJECTIVES: To report the phenotypic, genetic findings and outcome of children with lupus manifestations associated with primary immunodeficiency diseases (PIDs).

    METHODS: Data are retrospectively collected on patients with lupus manifestations and PIDs seen between 1998 and 2019. Data comprised the clinical findings and genetic testing, the response to treatment and the accrual damage related to SLE.

    RESULTS: A total of 39 patients (22 female) were reviewed. Thirty-four patients had lupus manifestations and six patients with SLE-like manifestations. Genetic analysis was performed in 25 patients. Complement deficiency was the most frequent PIDs; 26 patients were C1q deficient, three patients had C3 deficiency, two patients had C4 deficiency and one patient with heterozygous C8b variant. The other seven patients had different PIDs genetic defects that include SCID caused by PNP deficiency, CGD, CVID (PIK3CD), IL-2RB mutation, DNase II deficiency, STAT1 mutation, ISG15 mutation and Griscelli syndrome type 3. Mucocutaneous lesions, arthritis and lung involvement were the main clinical features. 84.1% experienced recurrent infections. The mean accrual damage was 2.7 ± 2.2. There were five deaths because of infection.

    CONCLUSION: This study suggests that patients with lupus manifestations and early onset disease, family history of SLE or recurrent infections should undergo immunological work-up and genetic testing to rule out PIDs.

    Matched MeSH terms: Purine-Pyrimidine Metabolism, Inborn Errors*
  3. Habib A, Md Yunus Z, Azize NA, Ch'ng GS, Ong WP, Chen BC, et al.
    Eur J Pediatr, 2013 Sep;172(9):1277-81.
    PMID: 23358709 DOI: 10.1007/s00431-013-1947-1
    Lysinuric protein intolerance (LPI; MIM 222700) is an inherited aminoaciduria with an autosomal recessive mode of inheritance. Biochemically, affected patients present with increased excretion of the cationic amino acids: lysine, arginine, and ornithine. We report the first case of LPI diagnosed in Malaysia presented with excessive excretion of homocitrulline. The patient was a 4-year-old male who presented with delayed milestones, recurrent diarrhea, and severe failure to thrive. He developed hyperammonemic coma following a forced protein-rich diet. Plasma amino acid analysis showed increased glutamine, alanine, and citrulline but decreased lysine, arginine and ornithine. Urine amino acids showed a marked excretion of lysine and ornithine together with a large peak of unknown metabolite which was subsequently identified as homocitrulline by tandem mass spectrometry. Molecular analysis confirmed a previously unreported homozygous mutation at exon 1 (235 G > A, p.Gly79Arg) in the SLC7A7 gene. This report demonstrates a novel mutation in the SLC7A7 gene in this rare inborn error of diamino acid metabolism. It also highlights the importance of early and efficient treatment of infections and dehydration in these patients.

    CONCLUSION: The diagnosis of LPI is usually not suspected by clinical findings alone, and specific laboratory investigations and molecular analysis are important to get a definitive diagnosis.

    Matched MeSH terms: Amino Acid Metabolism, Inborn Errors/diagnosis*; Amino Acid Metabolism, Inborn Errors/genetics; Amino Acid Metabolism, Inborn Errors/urine
  4. Thong MK
    Mol Genet Metab, 2012 Apr;105(4):551-2.
    PMID: 22284267 DOI: 10.1016/j.ymgme.2012.01.003
    Matched MeSH terms: Metabolism, Inborn Errors/etiology*; Metabolism, Inborn Errors/history*
  5. Ngu LH, Zabedah MY, Shanti B, Teh SH
    Malays J Pathol, 2008 Dec;30(2):109-14.
    PMID: 19291920 MyJurnal
    We report the biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. Organic aciduria typical of this rare inborn error metabolism was found when the elder sibling presented with an episode of severe ketoacidosis at 20 months of age, which consisted of excessive excretion of ketones, tiglylglycine, 2-methyl-3-hydroxybutyrate, and 2-methylacetoacetate. Blood acylcarnitiness profile showed elevation of C5OH-carnitine, which represents 2-methyl-3-hydroxybutyrylcarnitine. A similar biochemical profile was identified in the younger sibling during screening although he had only mild clinical symptoms. Both patients reported a favourable outcome on follow-up.
    Matched MeSH terms: Metabolism, Inborn Errors/physiopathology*; Metabolism, Inborn Errors/urine*
  6. Padilla CD, Therrell BL
    J Inherit Metab Dis, 2007 Aug;30(4):490-506.
    PMID: 17643195
    The success of blood spot newborn screening in the USA led to early screening efforts in parts of the Asia Pacific Region in the mid-1960s. While there were early screening leaders in the region, many of the countries with depressed and developing economies are only now beginning organized screening efforts. Four periods of screening growth in the Asia Pacific region were identified. Beginning in the 1960s, blood spot screening began in New Zealand and Australia, followed by Japan and a cord blood screening programme for G6PD deficiency in Singapore. In the 1980s, established programmes added congenital hypothyroidism and new programmes developed in Taiwan, Hong Kong, China (Shanghai), India and Malaysia. Programmes developing in the 1990s built on the experience of others developing more rapidly in Korea, Thailand and the Philippines. In the 2000s, with limited funding support from the International Atomic Energy Agency, there has been screening programme development around detection of congenital hypothyroidism in Indonesia, Mongolia, Sri Lanka, Myanmar and Pakistan. Palau has recently contracted with the Philippine newborn screening programme. There is little information available on newborn screening activities in Nepal, Cambodia, Laos and the other Pacific Island nations, with no organized screening efforts apparent. Since approximately half of the births in the world occur in the Asia Pacific Region, it is important to continue the ongoing implementation and expansion efforts so that these children can attain the same health status as children in more developed parts of the world and their full potential can be realized.
    Matched MeSH terms: Metabolism, Inborn Errors/blood*; Metabolism, Inborn Errors/diagnosis*
  7. Othman NH, Rahman SA
    Med J Malaysia, 1990 Dec;45(4):275-80.
    PMID: 2152046
    Cerebrotendinous xanthomatosis (CTX), a rare inherited lipid storage disease is due to a defect in bile acid metabolism. Involvement of five members of a family is presented. The clinical features, laboratory and pathologic findings are discussed. Tendinous and tuberous xanthomatosis, bilateral cataracts, cerebral impairment and raised serum cholestanol are the salient features. We believe this is the first report of CTX in Malaysia.
    Matched MeSH terms: Lipid Metabolism, Inborn Errors/genetics*; Lipid Metabolism, Inborn Errors/pathology
  8. Williams M, Valayannopoulos V, Altassan R, Chung WK, Heijboer AC, Keng WT, et al.
    J Inherit Metab Dis, 2019 01;42(1):147-158.
    PMID: 30740741 DOI: 10.1002/jimd.12036
    BACKGROUND: Transaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype-genotype correlation.

    METHODS: We performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D. In some patients, endocrine abnormalities have been found. To further evaluate these abnormalities, we performed biochemical investigations on blood of 14 patients.

    RESULTS AND CONCLUSIONS: Most patients (n = 22) had an early-onset presentation (prenatally or before 1 month of age); 12 patients had a late-onset presentation (3 months to 9 years). Main presenting symptoms were intrauterine growth restriction, dysmorphic facial features, congenital heart disease, anemia, thrombocytopenia, and hepato(spleno)megaly. An older sib of two affected patients was asymptomatic until the age of 9 years, and only after molecular diagnosis was hepatomegaly noted. In some patients, there was gonadal dysfunction with low levels of testosterone and secondary luteinizing hormone (LH) and follicle-stimulating hormone (FSH) abnormalities later in life. This overview provides information that can be helpful for managing patients and counseling families regarding prognosis. Diagnostic guidelines, possible genotype-phenotype correlations, treatment options, and pathophysiological disease mechanisms are proposed.

    Matched MeSH terms: Carbohydrate Metabolism, Inborn Errors/genetics*; Carbohydrate Metabolism, Inborn Errors/metabolism*
  9. Thong MK, Boey CC, Sheng JS, Ushikai M, Kobayashi K
    Singapore Med J, 2010 Jan;51(1):e12-4.
    PMID: 20200759
    We report two Malaysian siblings with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The younger sibling, a six-month-old Chinese girl, presented with prolonged neonatal jaundice, and was investigated for biliary atresia. Urine metabolic screen showed the presence of urinary-reducing sugars, and she was treated with a lactose-free formula. NICCD was suspected based on the clinical history, examination and presence of urinary citrulline. Mutation study of the SLC25A13 gene showed the compound heterozygotes, 851del4 and IVS16ins3kb, which confirmed the diagnosis of NICCD in the patient and her three-year-old female sibling, who also had unexplained neonatal cholestasis. Long-term dietary advice, medical surveillance and genetic counselling were provided to the family. The diagnosis of NICCD should be considered in infants with unexplained prolonged jaundice. DNA-based genetic testing of the SLC25A13 gene may be performed to confirm the diagnosis retrospectively. An awareness of this condition may help in early diagnosis using appropriate metabolic and biochemical investigations, thus avoiding invasive investigations in infants with neonatal cholestasis caused by NICCD.
    Matched MeSH terms: Metabolism, Inborn Errors/diagnosis; Metabolism, Inborn Errors/genetics*
  10. Elmonem MA, Belanger-Quintana A, Bordugo A, Boruah R, Cortès-Saladelafont E, Endrakanti M, et al.
    Mol Genet Metab, 2020 11;131(3):285-288.
    PMID: 33004274 DOI: 10.1016/j.ymgme.2020.09.004
    Quantitative estimates for the global impact of COVID-19 on the diagnosis and management of patients with inborn errors of metabolism (IEM) are lacking. We collected relevant data from 16 specialized medical centers treating IEM patients in Europe, Asia and Africa. The median decline of reported IEM related services in March 1st-May 31st 2020 compared to the same period in 2019 were as high as 60-80% with a profound impact on patient management and care for this vulnerable patient group. More representative data along with outcome data and guidelines for managing IEM disorders under such extraordinary circumstances are needed.
    Matched MeSH terms: Metabolism, Inborn Errors/diagnosis*; Metabolism, Inborn Errors/epidemiology; Metabolism, Inborn Errors/therapy*
  11. Balasubramaniam S, Wamelink MM, Ngu LH, Talib A, Salomons GS, Jakobs C, et al.
    J Pediatr Gastroenterol Nutr, 2011 Jan;52(1):113-6.
    PMID: 21119539 DOI: 10.1097/MPG.0b013e3181f50388
    Matched MeSH terms: Metabolism, Inborn Errors/complications; Metabolism, Inborn Errors/diagnosis; Metabolism, Inborn Errors/genetics*
  12. Tay CG, Ariffin H, Yap S, Rahmat K, Sthaneshwar P, Ong LC
    J Child Neurol, 2015 Jun;30(7):927-31.
    PMID: 25122112 DOI: 10.1177/0883073814540523
    Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessive disorder affecting catabolism of the neurotransmitter gamma-aminobutyric acid (GABA), with a wide range of clinical phenotype. We report a Malaysian Chinese boy with a severe early onset phenotype due to a previously unreported mutation. Urine organic acid chromatogram revealed elevated 4-hydroxybutyric acid. Magnetic resonance imaging (MRI) of the brain demonstrated cerebral atrophy with atypical putaminal involvement. Molecular genetic analysis showed a novel homozygous 3-bp deletion at the ALDH5A1 gene c.1501_1503del (p.Glu501del). Both parents were confirmed to be heterozygotes for the p.Glu501del mutation. The clinical course was complicated by the development of subdural hemorrhage probably as a result of rocking the child to sleep for erratic sleep-wake cycles. This case illustrates the need to recognize that trivial or unintentional shaking of such children, especially in the presence of cerebral atrophy, can lead to subdural hemorrhage.
    Matched MeSH terms: Amino Acid Metabolism, Inborn Errors/genetics*; Amino Acid Metabolism, Inborn Errors/pathology*; Amino Acid Metabolism, Inborn Errors/physiopathology
  13. Thong MK
    JUMMEC, 2012;15(2):1-8.
    MyJurnal
    The story of clinical genetics is a relatively new one, first spearheaded by paediatrics but increasingly, has taken root in all branches of medicine leading to ‘personalised medicine’. There are expectations that this revolution in genetics will pave the way to genomic medicine and a cure for all inherited disorders. The development of the field of Clinical Genetics and genetic counselling in Malaysia is still in its infancy. Using evidence-based data on genetic disorders such as birth defects, inborn errors of metabolism, genetic syndromes, neurological disorders and hereditary cancers, that hitherto have not been well documented in Malaysia, this review article will focus on findings and issues that will present a unique insight and opportunity to understanding the complex genetic counselling issues related to clinical genetics in Malaysia.
    Matched MeSH terms: Metabolism, Inborn Errors
  14. Rajan D, Constance LSL, Brandon P
    Med J Malaysia, 2019 04;74(2):174-175.
    PMID: 31079130
    Methylacetoacetyl-coenzyme A thiolase (MAT) deficiency is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase (T2). There is an error of isoleucine catabolism and ketone body utilization due to mutations in the acetyl-Coenzyme A acetyltransferase 1 (ACAT1) gene. We report a case of a 14 months old Sabahan boy with beta deficiency who presented with severe sepsis and ketoacidosis who subsequently recovered.
    Matched MeSH terms: Amino Acid Metabolism, Inborn Errors/complications; Amino Acid Metabolism, Inborn Errors/diagnosis*; Amino Acid Metabolism, Inborn Errors/genetics
  15. Lee WS, Davidson GP, Moore DJ, Butler RN
    J Paediatr Child Health, 2000 Aug;36(4):340-2.
    PMID: 10940167
    OBJECTIVE: To assess the validity and clinical application of a hand-held breath hydrogen (H2) analyzer (BreatH2, Europa Scientific, Crewe, UK).

    METHODOLOGY: Breath samples of patients referred to the Gastroenterology Unit, Women's and Children's Hospital, North Adelaide, South Australia, for confirmation of the diagnosis of carbohydrate malabsorption were analysed with the Quintron microlyzer (Quintron Instrument Co., Milwaukee, USA) and the BreatH2 analyser, using the Quintron microlyzer as the gold standard.

    RESULTS: Twenty-nine breath H2 tests (BHT) were performed in 29 patients aged 2 months to 61 years. The sensitivity and specificity of the BreatH2 analyser in detecting a positive BHT using the Quintron microlyser as the gold standard were 0.90 and 0.95 with positive and negative predictive values of 0.90 and 0.95, respectively. There was one false positive and one false negative reading. Bland-Altman plots showed a high degree of agreement between the values obtained with two different methods.

    CONCLUSIONS: The diagnosis of carbohydrate malabsorption, using a portable breath H2 analyser (BreatH2), achieved an acceptable degree of sensitivity and specificity, enabling it to be used where no alternative is available.

    Matched MeSH terms: Carbohydrate Metabolism, Inborn Errors/diagnosis*
  16. Chua CP
    Med J Malaysia, 1975 Dec;30(2):98-101.
    PMID: 1228389
    Matched MeSH terms: Carbohydrate Metabolism, Inborn Errors/complications*
  17. Habib A, Azize NA, Yakob Y, Md Yunus Z, Wee TK
    Malays J Pathol, 2016 Dec;38(3):305-310.
    PMID: 28028301 MyJurnal
    Lysinuric protein intolerance (LPI) is an inborn error of dibasic amino acid transport due to a defect in the dibasic amino acid transporter in the renal and intestine and has a heterogenous presentation. Three Malaysian patients with LPI were studied and their biochemical and molecular findings compared. There were differences and similarities in the biochemical and molecular findings. Molecular analysis of SLC7A7 gene revealed a novel mutation c.235G>A; p.(Gly79Arg) in exon three in Patient 1 and a mutation c.1417C>T; p.(Arg473*) in exon 10 in patient 2 and 3. The degree of concentration of dibasic amino acids may determine the type of disease of the cell membrane transport, however, a positive molecular confirmation will secure the diagnosis.
    Matched MeSH terms: Amino Acid Metabolism, Inborn Errors/genetics*
  18. Mohd Khialdin S, Grigg J, Rowe N, Crofts S, Wilson M, Troedson C
    PMID: 26396085 DOI: 10.1007/s10633-015-9511-0
    Phosphoglycerate kinase (PGK) deficiency is an X-linked neurometabolic genetic disorder with variable systemic manifestations. So far, only one patient with retinal anomalies has been reported, but no visual electrophysiology findings were described. We report the first description of visual electrophysiology in a child with PGK deficiency. This provides further information for the site of involvement in the eye.
    Matched MeSH terms: Metabolism, Inborn Errors/genetics; Metabolism, Inborn Errors/physiopathology*
  19. Ong AL, Teh CK, Mayes S, Massawe F, Appleton DR, Kulaveerasingam H
    Plants (Basel), 2020 Nov 03;9(11).
    PMID: 33152992 DOI: 10.3390/plants9111476
    Oil palm (Elaeis guineensis Jacq.) is the most traded crop among the economically important palm species. Here, we report an extended version genome of E. guineensis that is 1.2 Gb in length, an improvement of the physical genome coverage to 79% from the previous 43%. The improvement was made by assigning an additional 1968 originally unplaced scaffolds that were available publicly into the physical genome. By integrating three ultra-dense linkage maps and using them to place genomic scaffolds, the 16 pseudomolecules were extended. As we show, the improved genome has enhanced the mapping resolution for genome-wide association studies (GWAS) and permitted further identification of candidate genes/protein-coding regions (CDSs) and any non-coding RNA that may be associated with them for further studies. We then employed the new physical map in a comparative genomics study against two other agriculturally and economically important palm species-date palm (Phoenix dactylifera L.) and coconut palm (Cocos nucifera L.)-confirming the high level of conserved synteny among these palm species. We also used the improved oil palm genome assembly version as a palm genome reference to extend the date palm physical map. The improved genome of oil palm will enable molecular breeding approaches to expedite crop improvement, especially in the largest subfamily of Arecoideae, which consists of 107 species belonging to Arecaceae.
    Matched MeSH terms: Lipid Metabolism, Inborn Errors
  20. Bilodi, Arun Kumar .S, Gangadhar, M R
    MyJurnal
    Anomaly is a congenital disorder. It is a medical condition that is present since birth. But the word congenital neither applies nor excludes genetic disorder. Congenital anomalies due to environmental factors are called as Teratogens. Infections, deficiency in the diet and toxins are environmental causes. Maternal folic acid deficiency may cause spina bifida. Intake of alcohol, and certain prescribed drugs like phenytoin may cause congenital anomalies or defects. Apart from physical anomalies, other types of congenital disorders are inborn errors of metabolism (Kumar, Abbas and Fausto, 2005). About 15% to 25% of anomalies are due to chromosomal factors or single gene factors, 8% to 12% anomalies are said to be due to environmental factors, 25% are said to be due to multifactorial inheritance 40% to 60% of anomalies are of unknown origin (Stevenson, 1993 ; Nelson and Holmes, 1984). Congenital anomalies are present since birth with structural deformity found immediately after birth or their presence may be detected by signs and symptoms later on (Holland and Brew, 1991). Congenital Anomalies are seen in 2% of population as major abnormality. There are two types of abnormalities, namely malformations where growth disturbances occur during embryogenesis and the other is deformation. It is late change that appears in a structure which was normal earlier (Roizen and Patterson, 2003).
    Matched MeSH terms: Metabolism, Inborn Errors
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