Principles of Peri-mortem Investigation of Inherited Metabolic Disorders

Czech version

Authors: E. Marklová
Authors‘ workplace: Dětská klinika Fakultní nemocnice, Hradec Králové, přednostka doc. MUDr. E. Pařízková, CSc.
Published in: Čes-slov Pediat 2001; (4): 220-224.
Category:

Overview

Principles of Peri-mortem Investigation of Inherited Metabolic DisordersSeveral inherited metabolic diseases might cause a sudden death of a child, rarely of an adolescent or an adults. Disorders include gluconeogenesis and ketogenesis defects, organic acidurias, fructose intolerance, urea cycle disorders and mitochondriopathies, namely fatty acid transport and oxidation defects. Recommended protocol for material collection and the type of proposed investigation is given. A list of diseases, diagnosed post-mortem, is presented.

Key words:
inherited metabolic disorders, sudden death, peri-mortem investigation

Full text is not available online.

If interested in a scan of this journal, contact NTO ČLS JEP.

Labels

Neonatology Paediatrics General practitioner for children and adolescents

Bed-side Pulmonary Function Testing and Continuous In-line Mechanics - What Can We Learn from Loops and Waves?

Perception Hearing Disorders in Children in Association with other Diseases

The Life Events Inventory (LEI) - Elaboration and Testing of a New Standard for the Child Population

Changes of Frequency Parameters of the ECG Signal in Paediatric Oncologic Patients Treated with Anthracyclines

Traumatic Tracheal and Bronchial Rupture

Thyroid Carcinoma in Patients Treated during Childhood by Actinotherapy on Account of Malignant Disease

Diagnosis of the Syndrome of the Maltreated, Abused and Neglected Child - Recommended Procedure for Primary Care Physicians

Incidence of Birth Defects and Successfulness of Prenatal Diagnosis in the Czech Republic in 1999

Article was published in

Czech-Slovak Pediatrics

2001 Issue 4