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Diagnostics
Volume 15
Issue 21
10.3390/diagnostics15212806
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Review

The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children

by
Patryk Lipiński
1,2,* and
Anna Doroba
1
1
Department of Pediatrics, Bielański Hospital, 01-809 Warsaw, Poland
2
Department of Pediatrics, Medical Center of Postgraduate Education, 01-813 Warsaw, Poland
*
Author to whom correspondence should be addressed.
Diagnostics 2025, 15(21), 2806; https://doi.org/10.3390/diagnostics15212806
Submission received: 13 September 2025 / Revised: 23 October 2025 / Accepted: 29 October 2025 / Published: 5 November 2025
(This article belongs to the Special Issue Clinical and Laboratory Diagnosis of Inherited Metabolic Diseases in Children)
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Abstract

Pediatricians play a crucial role in the early diagnosis and management of inherited metabolic diseases (IMDs). The diagnosis of IMD is based on the principle of selective screening, often requiring highly specialized testing, including biochemical and molecular analyses. The aim of this comprehensive review was to provide pediatricians with the usefulness of basic laboratory analyses in diagnostic process of IMD. The abnormal results of basic laboratory analyses were thoroughly discussed in the context of clinical manifestations of IMDs. Easy-to-use algorithms were implemented to ensure an appropriate differential diagnosis.
Keywords: inherited metabolic diseases; selective screening; laboratory analyses; children inherited metabolic diseases; selective screening; laboratory analyses; children

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MDPI and ACS Style

Lipiński, P.; Doroba, A. The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. Diagnostics 2025, 15, 2806. https://doi.org/10.3390/diagnostics15212806

AMA Style

Lipiński P, Doroba A. The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. Diagnostics. 2025; 15(21):2806. https://doi.org/10.3390/diagnostics15212806

Chicago/Turabian Style

Lipiński, Patryk, and Anna Doroba. 2025. "The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children" Diagnostics 15, no. 21: 2806. https://doi.org/10.3390/diagnostics15212806

APA Style

Lipiński, P., & Doroba, A. (2025). The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. Diagnostics, 15(21), 2806. https://doi.org/10.3390/diagnostics15212806

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