Related Experiment Video

Updated: Oct 5, 2025

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
06:15

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus

Published on: March 6, 2019

50.6K

Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection

Mohamed Thowfeek Zeenath Thaneefa1, Givani Amarakoon2, Devan Mendis3

  • 1Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Sri Lanka.

Clinica Chimica Acta; International Journal of Clinical Chemistry
|January 27, 2022
PubMed

Insights

Lipoprotein lipase (LPL) deficiency, a rare metabolic disorder, was incidentally diagnosed in an infant with a respiratory infection. Treatment with a low-fat diet and medium-chain triglyceride formula normalized triglyceride levels.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Lipoprotein lipase (LPL) deficiency is a rare inherited disorder of lipid metabolism.
  • It typically presents in childhood with severe hypertriglyceridaemia.
  • Early diagnosis and management are crucial to prevent complications.

Purpose of the Study:

  • To report the incidental diagnosis and successful management of LPL deficiency in an infant.
  • To highlight the importance of considering metabolic disorders in pediatric patients with non-specific symptoms.

Main Methods:

  • Case report of an infant presenting with acute respiratory tract infection.
  • Biochemical analysis revealing milky serum and hypertriglyceridaemia (>1000 mg/dL).
  • Genetic testing identifying compound heterozygous LPL variants (c.808C>G p.(Arg270Gly) and c.1019-3C>G).

Main Results:

  • The infant presented with symptoms of a lower respiratory tract infection.
  • Incidental findings included milky serum and markedly elevated triglycerides.
  • Genetic analysis confirmed compound heterozygous LPL deficiency.
  • Treatment with a low-fat diet and medium-chain triglyceride formula led to normalized triglyceride levels.

Conclusions:

  • LPL deficiency can be incidentally diagnosed in infants presenting with common infections.
  • A combination of dietary modification and specialized formula can effectively manage LPL deficiency.
  • This case underscores the need for comprehensive metabolic evaluation in pediatric hypertriglyceridaemia.

Keywords:
Compound heterozygoteFamilial chylomicronaemiaLPL deficiencyLipoprotein lipase

More Related Videos

Inducing Acute Lung Injury in Mice by Direct Intratracheal Lipopolysaccharide Instillation11:07

Inducing Acute Lung Injury in Mice by Direct Intratracheal Lipopolysaccharide Instillation

Published on: July 6, 2019

25.6K
Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats07:36

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on: November 20, 2015

11.5K

Related Concept Videos

Pneumonia III: Complications and Assessment01:30

Pneumonia III: Complications and Assessment

Pneumonia poses the potential for numerous complications that warrant consideration. These complications include the following:
513
Acute Respiratory Failure-V01:29

Acute Respiratory Failure-V

The treatment for acute respiratory failure varies based on factors like the underlying cause, overall health, and severity. A collaborative healthcare team is essential for early detection, often through arterial blood gas analysis. Identifying the cause is the primary goal, with treatment strategies adjusted for ventilation/perfusion (V/Q) mismatch, shunting, or diffusion impairment.
Ensure that patients are monitored continuously for their response to therapy, including changes in...
227
Acute Respiratory Failure-I01:21

Acute Respiratory Failure-I

Acute respiratory failure is a condition characterized by the inability of the lungs to perform their primary function: gas exchange. This failure leads to insufficient oxygen levels (hypoxemia) in the blood, elevated carbon dioxide levels (hypercapnia), or both, causing critical impairment in organ function.
Definition: It is defined by specific criteria based on blood gas measurements. Hypoxemia happens when the partial pressure of oxygen (PaO2) falls below 60 mmHg. At the same time,...
382
Respiratory System Abnormal Finding I: Inspection and Percussion01:30

Respiratory System Abnormal Finding I: Inspection and Percussion

Respiratory system abnormalities are a significant concern in healthcare due to their potential to indicate underlying severe conditions like Chronic Obstructive Pulmonary Disease (COPD), asthma, and pneumonia. These abnormalities can often be detected through physical examination methods like inspection and percussion.
Inspection Findings
During an inspection, several findings may suggest the presence of respiratory distress or disease. Pursed-lip breathing, where exhalation is slowed by...
460
Acute Respiratory Failure-II01:21

Acute Respiratory Failure-II

Type I Respiratory Failure, or hypoxemic respiratory failure, occurs when the partial pressure of oxygen (PaO2) in arterial blood falls below 60 mmHg while breathing room air without a corresponding increase in arterial carbon dioxide levels (PaCO2). This condition highlights a significant impairment in the lungs' capacity to oxygenate the blood.
The underlying physiological abnormalities that contribute to hypoxemic respiratory failure include:
417
Acute Respiratory Failure-III01:30

Acute Respiratory Failure-III

Hypercapnic respiratory failure, also known as Type 2 or ventilatory respiratory failure, is a severe condition characterized by the body's inability to effectively remove carbon dioxide (CO2) from the bloodstream. It leads to an arterial CO2 pressure (PaCO2) exceeding 45 mmHg and a blood pH above 7.35. This situation indicates that the body's ventilatory demand, or the ventilation needed to maintain normal PaCO2 levels, surpasses its supply or the maximum gas flow achievable without...
373