Organic Acidemias in Pediatric ICU Prof. Dr. Laila Abdel Mottaleb Selim

Organic Acidemias in Pediatric ICU

Prof. Dr. Laila Abdel MotTaleb Selim
Professor of pediatrics
Division of neurology and metabolic
Cairo University Children’s Hospital

Overview

Introduction

Common Organic acidemias encountered in PICU

Case presentation from the Neurometabolic Clinic

Emergency Management of Organic Acidemia in ICU setting


Organic acidemias, also known as organic acidurias, are a group of inherited disorders characterized by increased excretion of organic acids in urine.
They result primarily from deficiencies of specific enzymes in the breakdown pathways of amino acids or from enzyme deficiencies in beta oxidation of fatty acids or carbohydrate metabolism.
Organic acids also are found in the urine of some patients with mitochondrial disease

Most organic acidemias become clinically apparent during the newborn period or early infancy and are on the top of the list of inborn errors of metabolism ( IEMS) presenting as acute emergencies in NICU and PICU.

After an initial period of well being, affected children develop a life-threatening episode of metabolic acidosis characterized by an increased anion gap. This presenting episode may be mistaken for sepsis and, if unrecognized, is associated with significant mortality.


Children with an organic acidemia are susceptible to metabolic decompensation during episodes of increased catabolism, such as intercurrent illness, trauma, or surgery.

Parents and physicians must be well informed about the initial signs of decompensation and trained in applying an emergency regimen .
Surgeons and anesthesiologists should be aware of potential complications and their prevention during anesthesia and surgery.


Diagnosis has been facilitated through the use of gas chromatograph-mass
spectrometry (GC-MS) and tandem-mass spectrometry .

Prenatal diagnosis is available for most disorders
by detection of diagnostic compounds in amniotic fluid,
by analysis of enzyme activities in amniocytes or chorionic villi,
by molecular analysis, or by a combination of the three .

Diagnosis also may be made through newborn screening by tandem mass spectrometry, which is available in all states of the United States, Australia, and many European countries .