The PREVALENCE OF CLINICAL SPECTRUM OF INHERITED METABOLIC DISORDERS IN INFANTS AND CHILDREN AT A TERTIARY CARE HOSPITAL IN RAWALPINDI, PAKISTAN Clinical manifesttaions of IMDs.

Objective: To determine the frequency of a wide range of clinical presentations of inherited metabolic disorders diagnosed in infants and children at a tertiary care hospital in Rawalpindi, Pakistan. Study Design: Cross sectional study Place and Duration of Study: MH Rawalpindi, from June 201...

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Autores principales:	Ayesha Batool, Saeed Zaman, Ammara Ayub, Kulsum Bilal, Qudratullah Malik
Formato:	article
Lenguaje:	EN
Publicado:	Army Medical College Rawalpindi 2020
Materias:	inherited metabolic disorders glycogen storage disorders consanguinity convulsions Medicine R Medicine (General) R5-920
Acceso en línea:	https://doi.org/10.51253/pafmj.v70i6.2417 https://doaj.org/article/3e7c28f527d04421b4950756dfdfae63
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spelling	oai:doaj.org-article:3e7c28f527d04421b4950756dfdfae632021-12-02T19:12:08ZThe PREVALENCE OF CLINICAL SPECTRUM OF INHERITED METABOLIC DISORDERS IN INFANTS AND CHILDREN AT A TERTIARY CARE HOSPITAL IN RAWALPINDI, PAKISTAN Clinical manifesttaions of IMDs.https://doi.org/10.51253/pafmj.v70i6.24170030-96482411-8842https://doaj.org/article/3e7c28f527d04421b4950756dfdfae632020-12-01T00:00:00Zhttps://pafmj.org/index.php/PAFMJ/article/view/2417https://doaj.org/toc/0030-9648https://doaj.org/toc/2411-8842Objective: To determine the frequency of a wide range of clinical presentations of inherited metabolic disorders diagnosed in infants and children at a tertiary care hospital in Rawalpindi, Pakistan. Study Design: Cross sectional study Place and Duration of Study: MH Rawalpindi, from June 2015 till June 2016. Material and Methods: 64 children diagnosed with metabolic disorders, reporting to the MH Rawalpindi, were enrolled in the study. History was taken with special reference to family history, consanguineous marriage, sibling’s death and clinical manifestations. Thorough physical examination was done in every patient to find out the clinical signs present. All the data was recorded on a proforma. SPSS-20 version was used to derive the results and p-value of <0.05 was taken as statistically significant. Results: In children with metabolic disorders, gastrointestinal manifestations were more significant 78·1% (p-value 0.022). Neurological signs were present in 60·9% (p-value 0.094) while respiratory manifestations were present in 15·6% children (p-value 0.251). 53·1% were males and 46·9% were females. The positive history of other affected children in family was significant (p-value 0.015), along with hypoglycaemia (p-value 0.001). Conclusion: Pallor, failure to thrive, poor feeding, convulsions, lethargy and hypoglycemia were the most frequent clinical manifestations in children with metabolic disorders.Ayesha BatoolSaeed ZamanAmmara AyubKulsum BilalQudratullah MalikArmy Medical College Rawalpindiarticleinherited metabolic disordersglycogen storage disordersconsanguinityconvulsionsMedicineRMedicine (General)R5-920ENPakistan Armed Forces Medical Journal, Vol 70, Iss 6, Pp 1616-1621 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	inherited metabolic disorders glycogen storage disorders consanguinity convulsions Medicine R Medicine (General) R5-920
spellingShingle	inherited metabolic disorders glycogen storage disorders consanguinity convulsions Medicine R Medicine (General) R5-920 Ayesha Batool Saeed Zaman Ammara Ayub Kulsum Bilal Qudratullah Malik The PREVALENCE OF CLINICAL SPECTRUM OF INHERITED METABOLIC DISORDERS IN INFANTS AND CHILDREN AT A TERTIARY CARE HOSPITAL IN RAWALPINDI, PAKISTAN Clinical manifesttaions of IMDs.
description	Objective: To determine the frequency of a wide range of clinical presentations of inherited metabolic disorders diagnosed in infants and children at a tertiary care hospital in Rawalpindi, Pakistan. Study Design: Cross sectional study Place and Duration of Study: MH Rawalpindi, from June 2015 till June 2016. Material and Methods: 64 children diagnosed with metabolic disorders, reporting to the MH Rawalpindi, were enrolled in the study. History was taken with special reference to family history, consanguineous marriage, sibling’s death and clinical manifestations. Thorough physical examination was done in every patient to find out the clinical signs present. All the data was recorded on a proforma. SPSS-20 version was used to derive the results and p-value of <0.05 was taken as statistically significant. Results: In children with metabolic disorders, gastrointestinal manifestations were more significant 78·1% (p-value 0.022). Neurological signs were present in 60·9% (p-value 0.094) while respiratory manifestations were present in 15·6% children (p-value 0.251). 53·1% were males and 46·9% were females. The positive history of other affected children in family was significant (p-value 0.015), along with hypoglycaemia (p-value 0.001). Conclusion: Pallor, failure to thrive, poor feeding, convulsions, lethargy and hypoglycemia were the most frequent clinical manifestations in children with metabolic disorders.
format	article
author	Ayesha Batool Saeed Zaman Ammara Ayub Kulsum Bilal Qudratullah Malik
author_facet	Ayesha Batool Saeed Zaman Ammara Ayub Kulsum Bilal Qudratullah Malik
author_sort	Ayesha Batool
title	The PREVALENCE OF CLINICAL SPECTRUM OF INHERITED METABOLIC DISORDERS IN INFANTS AND CHILDREN AT A TERTIARY CARE HOSPITAL IN RAWALPINDI, PAKISTAN Clinical manifesttaions of IMDs.
title_short	The PREVALENCE OF CLINICAL SPECTRUM OF INHERITED METABOLIC DISORDERS IN INFANTS AND CHILDREN AT A TERTIARY CARE HOSPITAL IN RAWALPINDI, PAKISTAN Clinical manifesttaions of IMDs.
title_full	The PREVALENCE OF CLINICAL SPECTRUM OF INHERITED METABOLIC DISORDERS IN INFANTS AND CHILDREN AT A TERTIARY CARE HOSPITAL IN RAWALPINDI, PAKISTAN Clinical manifesttaions of IMDs.
title_fullStr	The PREVALENCE OF CLINICAL SPECTRUM OF INHERITED METABOLIC DISORDERS IN INFANTS AND CHILDREN AT A TERTIARY CARE HOSPITAL IN RAWALPINDI, PAKISTAN Clinical manifesttaions of IMDs.
title_full_unstemmed	The PREVALENCE OF CLINICAL SPECTRUM OF INHERITED METABOLIC DISORDERS IN INFANTS AND CHILDREN AT A TERTIARY CARE HOSPITAL IN RAWALPINDI, PAKISTAN Clinical manifesttaions of IMDs.
title_sort	prevalence of clinical spectrum of inherited metabolic disorders in infants and children at a tertiary care hospital in rawalpindi, pakistan clinical manifesttaions of imds.
publisher	Army Medical College Rawalpindi
publishDate	2020
url	https://doi.org/10.51253/pafmj.v70i6.2417 https://doaj.org/article/3e7c28f527d04421b4950756dfdfae63
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The PREVALENCE OF CLINICAL SPECTRUM OF INHERITED METABOLIC DISORDERS IN INFANTS AND CHILDREN AT A TERTIARY CARE HOSPITAL IN RAWALPINDI, PAKISTAN Clinical manifesttaions of IMDs.

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