Related Experiment Video

Updated: Apr 4, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

8.7K

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Simon A Jones1, Vassili Valayannopoulos2, Eugene Schneider3

  • 1Manchester Centre for Genomic Medicine, St. Mary's Hospital, CMFT, University of Manchester, Manchester, UK.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|August 28, 2015
PubMed

Insights

Lysosomal acid lipase deficiency (LALD) in infants presents with severe symptoms and poor survival rates, even with treatments like hematopoietic stem cell transplant (HSCT). Early growth failure significantly worsens outcomes for LALD patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Medicine

Background:

  • Lysosomal acid lipase deficiency (LALD) is a rare genetic disorder.
  • Infantile-onset LALD is characterized by severe clinical manifestations and high mortality.
  • Understanding the progression and outcomes of LALD is crucial for early diagnosis and management.

Purpose of the Study:

  • To enhance the understanding of lysosomal acid lipase deficiency (LALD) in infants.
  • To analyze the clinical course and survival rates of infants diagnosed with LALD.
  • To identify factors influencing outcomes, such as early growth failure and treatment interventions.

Main Methods:

  • Retrospective review of medical records for infants diagnosed with LALD.
  • Data summarization for overall population and subgroups with/without early growth failure (GF).
  • Kaplan-Meier survival analyses for treated and untreated patients.

Main Results:

  • Analysis of 35 infants with LALD, 26 experiencing early GF.
  • Common symptoms included vomiting, diarrhea, and steatorrhea.
  • Overall median survival was 3.7 months; probability of survival past 12 months was 0.114.
  • Infants with early GF had a median survival of 3.5 months.
  • Treated patients (HSCT, n=9; HSCT+liver transplant, n=1) showed improved survival (median 8.6 months) but outcomes remained poor.

Conclusions:

  • Data confirm and expand previous findings on infantile LALD progression.
  • Clinical outcomes for LALD in infancy are consistently poor despite treatment variations.
  • Early growth failure is associated with significantly worse survival.
Abstract

More Related Videos

Author Spotlight: Exploring the Relationship Between Lipotoxicity and HFpEF03:42

Author Spotlight: Exploring the Relationship Between Lipotoxicity and HFpEF

Published on: March 29, 2024

2.2K
Exploring the Regulation of Lipid Droplet Catabolism through Lipophagy07:20

Exploring the Regulation of Lipid Droplet Catabolism through Lipophagy

Published on: January 31, 2025

1.4K

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.8K
Lipid Digestion01:06

Lipid Digestion

Lipids are large molecules that are generally not water-soluble. Since most of the digestive enzymes in the human body are water-based, there are specific steps the body must take to break down lipids and make them available for use.
107.4K
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
337
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.0K
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
750
Overview of Lipid Metabolism01:24

Overview of Lipid Metabolism

Lipid metabolism is a crucial process in the human body that involves the synthesis and degradation of lipids. This process is essential for energy production, cell membrane formation, and hormone production, among other functions.
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...
6.8K