Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: A human metabolome study by GC-MS in China

Song, Yuan‐Zong; Li, Bingxiao; Hu, Hao; Xin, Ruo-Lei; Zhang, Ting; Zhang, Chunhua; Kobayashi, Keiko; Zi-neng, Wang; Zheng, Xiaoying

doi:10.1016/j.clinbiochem.2008.01.025

Cited by 17 publications

(13 citation statements)

References 13 publications

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“…The overall detection of organic acidurias revealed by Daisuke Hori et al (2005) was 3.1% comprising mainly MMA and PA i.e, the predominance of MMA over PA was seen in Asian children [32]. MMA is the most common organic acidemia in many studies [32,33]. Death occurred in at least 15 patients (33.3%) and in those, 8 cases diagnosis was performed very late, so that treatment could not be instituted.…”

Section: Discussionmentioning

confidence: 99%

Diagnosis of Major Organic Acidurias in Children: Two Years Experience at a Tertiary Care Centre

Narayanan¹,

Vaidyanathan²,

Vinayan

et al. 2011

Ind J Clin Biochem

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Organic acid disorders are inherited metabolic disorders in which organic acids accumulate in tissues and biological fluids of affected individuals. Classical organic acidurias include methylmalonic aciduria, propionic aciduria, isovaleric aciduria and maple syrup urine disease (MSUD). They are considered the most frequent metabolic disorders among severely ill children. Patients frequently present with acute symptoms early in life. 420 cases clinically suspected to have organic aciduria, with upper age limit of 12 years for a 2-year period (January 2007-December 2008) were enrolled into this study. Metabolic acidosis and neurological symptoms were the most common signs. Screening tests and thin layer chromatography were done for detection of organic acidurias. Identification and quantitation of organic acids in urine and quantification of amino acids in blood were done by high performance liquid chromatography. Out of 420 patients, 45 patients (10.7%) were found to have organic acidurias. 15 cases of methylmalonic aciduria, 16 cases of propionic aciduria, 13 cases of MSUD, and one case of isovaleric aciduria were diagnosed. Results demonstrate the importance of testing for organic acidurias. Since organic aciduria may cause irreversible brain damage if not treated, we recommend selective screening amongst severely ill children despite implied extra costs.

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Section: Discussionmentioning

confidence: 99%

Diagnosis of Major Organic Acidurias in Children: Two Years Experience at a Tertiary Care Centre

Narayanan¹,

Vaidyanathan²,

Vinayan

et al. 2011

Ind J Clin Biochem

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“…The overall detection of organic acidurias revealed by Daisuke Hori et al [47] was 3.1% comprising mainly MMA and PA i.e, the predominance of MMA over PA was seen in Asian children [47]. MMA is the most common organic acidemias in many studies [47,48] …”

Section: International Studiesmentioning

confidence: 96%

Organic Acidurias: An Updated Review

Vaidyanathan

Narayanan²,

Vasudevan³

2011

Ind J Clin Biochem

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Organic acidurias are an important class of inherited metabolic disorders arising due to defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation. This review summarizes the current knowledge about the important organic acidurias in the Indian population. Specifically, diagnosis and principles of treatment of organic acidurias are covered. The salient features of common organic acidurias as well as their prevalence in various parts of the world are reviewed in some detail.

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“…Songa Y, Lia B, Her Haoa et al, a study from china shows methylmalonic aciduria was the common IEM found and B12 deficiency was the commonest cause. [15] In our patient with PKU, there was microcephaly, muscular hypotonia, cerebral palsy with hypopigmented hairs which are usually associated with classical condition. [16,17] During the course of our study we have come across with two cases of homocysteinuria with similar complaints in two siblings.…”

Section: Resultsmentioning

confidence: 88%

Prevalence of Aminoacidurias in a Tertiary Care Pediatric Medical College Hospital

George¹,

Amaresh²,

J³

2015

jemds

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BACKGROUND: Inborn errors of metabolism (IEM) comprises of a diverse group of heterogeneous disorders manifesting in paediatric population. Cases of Inborn errors of metabolism, individually are rare but collectively are common. The timing of presentation depends on significant accumulation of toxic metabolites or on the deficiency of substrate. These disorders manifest by subtle neurologic or psychiatric features often go undiagnosed until adulthood. OBJECTIVES: The objectives of the present study was to carry out preliminary screening on urine samples from pediatric population with either metabolic or neurological manifestations for inborn errors of metabolism and to know the prevalence of aminoaciduria in tertiary care setup for early diagnosis and detection. METHODS: The present study is a cross sectional time bound study carried out at Niloufer Institute of Child Health, Osmania Medical College, Hyderabad, from August 2013 to July 2014. A total of 119 samples were analyzed from suspected cases of IEM. Samples were analyzed for all physical and chemical parameters and positive cases reported by these investigations were referred for confirmation by TMS, HPLC, and GCMS. RESULTS: Among 119 children analyzed, 29 were given presumptive diagnosis of IEM based on screening tests, urinary aminoacidogram by TLC and clinical correlation. Analysis of the data showed that maximum were in the neonatal age group. Out of these 29 positive cases, 17 were generalized aminoacidurias, 2 were branched chain aminoaciduria, another 2 were methylmalonic aciduria, and one cases each of other aminoacidurias. CONCLUSION: Early recognition of IEM by screening tests in combination with strong clinical suspicion will help the clinicians to initiate prompt early treatment to prevent lethal neurological complications and developmental delay. These simple screening tests are highly cost effective and will reduce the economic burden of the patients.

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Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: A human metabolome study by GC-MS in China

Cited by 17 publications

References 13 publications

Diagnosis of Major Organic Acidurias in Children: Two Years Experience at a Tertiary Care Centre

Diagnosis of Major Organic Acidurias in Children: Two Years Experience at a Tertiary Care Centre

Organic Acidurias: An Updated Review

Prevalence of Aminoacidurias in a Tertiary Care Pediatric Medical College Hospital

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