Inborn errors of metabolism: Review and data from a tertiary care center

Rao, Ananth N.; Kavitha, Jakka; Koch, Minakshi; Kumar, V. Suresh

doi:10.1007/s12291-009-0041-y

Cited by 26 publications

(27 citation statements)

References 10 publications

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“…This is closer to the ratio of 1.9:1 as reported in earlier studies. [15] Another study in the Indian context reported the male to female ratio of 15:11,[14] supporting our finding where males are more affected than females. A higher male to female ratio may be because certain IEMs are transmitted by X-linked inheritance.…”

Section: Discussionsupporting

confidence: 86%

Communication Impairments in Children with Inborn Errors of Metabolism: A Preliminary Study

Tiwari¹,

Kallianpur²,

DeSilva³

2017

Indian Journal of Psychological Medicine

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Purpose:Inborn Errors of Metabolism (IEMs) are a group of complex genetic conditions, predominantly affecting the pediatric population. While the understanding and identification of various IEMs has significantly improved over recent times, not much is known about the communication disorders in this population. The present study focused on identification and profiling of communication impairments in children diagnosed with IEMs.Methods:Data was obtained retrospectively from medical records of children visiting a tertiary care hospital over a period of ten years (2005 – 2014). Selected data was reviewed to obtain demographic details, clinical signs/manifestations, laboratory findings, risk factors, developmental disorders and reported communication impairments.Results:The findings of the study showed a variety of clinical signs and laboratory findings in children with inborn errors of metabolism. A few of the risk factors observed in the group were consanguinity, sibling death and family history of other disorders. Many children with IEM displayed communication disorders, most common as the delay in speech and language development.Conclusions:The results of this study showed that various communication disorders were seen in almost half of the children with a diagnosis of IEM. Findings are discussed with implications for future research in this direction.

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Section: Discussionsupporting

confidence: 86%

Communication Impairments in Children with Inborn Errors of Metabolism: A Preliminary Study

Tiwari¹,

Kallianpur²,

DeSilva³

2017

Indian Journal of Psychological Medicine

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“…However, it is not reasonable to make firm decision on the basis of screening test. HPLC is an acceptable technique to analyze and quantification of amino acids, organic acids and metabolites from biological fluids [35]. It is speculated that late suspicion was an obstacle for early diagnosis of OA [36].…”

Section: Indian Studiesmentioning

confidence: 99%

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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“…For diagnosis, a wide knowledge of individual metabolic diseases or biochemical pathways is not required. An understanding of the major clinical manifestations of IEMs provides the basis for knowing when to consider them in a differential diagnosis [3]. Most congenital metabolic diseases are now detectable by newborn screening (NBS) tests, especially the expanded testing of blood, plasma, and urine by mass spectrometry.…”

mentioning

confidence: 99%

Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates

Keyfi¹,

Nasseri²,

Nayerabadi³

et al. 2018

Hum Hered

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Objective: Inborn errors of metabolism (IEMs) are disorders with various manifestations that occur mainly in the pediatric population. In countries where consanguineous marriage is common, the association between consanguinity and IEMs is highly important. No studies have been conducted in Iran examining the impact of consanguinity on IEMs. Methods: In this retrospective study, the incidences of metabolic disorders were evaluated for the years 2006 through 2016 in the North East Iran Regional Diagnostic Laboratory (Pardis Clinical and Genetic Laboratory). A total of 13,327 infants with clinical symptoms were referred and investigated for IEMs. Newborn screening was performed on samples from all patients suspected of having IEMs. Results: Of 13,327 infants examined, 60 different IEMs were diagnosed in 1,118. The most frequent disorders among our patients were glucose-6-phosphate dehydrogenase deficiency (G6PDD) (14.04%), methylmalonic and propionic acidurias (MMA/PA) (9.12%), phenylketonuria (PKU) (8%), and isovaleric acidemia (IVA) (6.98%). A significant difference was found in the prevalence of amino acid disorders between the offspring of consanguineous and those of non-consanguineous parents. No statistically significant differences were found between the 2 groups for organic or fatty acids, carnitine or urine cycles, or lysosomal storage disorders. A total of 707 of the 1,118 infants with metabolic diseases (63.24%) were children of consanguineous parents. These findings show that consanguinity can be an important factor in the inheritance of recessive mutations in a homozygous state. Conclusion: This study found a greater frequency of metabolic diseases in offspring of consanguineous parents than in those of non-consanguineous parents in a population with a high rate of consanguinity.

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Inborn errors of metabolism: Review and data from a tertiary care center

Abstract: ABSTRACT

Cited by 26 publications

References 10 publications

Communication Impairments in Children with Inborn Errors of Metabolism: A Preliminary Study

Communication Impairments in Children with Inborn Errors of Metabolism: A Preliminary Study

Organic Acidurias: An Updated Review

Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates

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