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Pedigree Analysis

Pedigree Analysis

Protein Import into the Peroxisomes

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...

Disorders of Erythrocytes

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...

Inborn Errors of Metabolism

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...

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

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...

Pharmacokinetics in Pediatric Patients: Drug Metabolism

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 a challenge in...

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Related Experiment Video

Updated: Jul 19, 2026

Measurement of Heme Synthesis Levels in Mammalian Cells

Measurement of Heme Synthesis Levels in Mammalian Cells

Published on: July 9, 2015

Porphyria in childhood

J D Jensen¹, S D Resnick

¹Department of Dermatology, University of North Carolina at Chapel Hill 27514, USA.

Seminars in Dermatology

|March 1, 1995

Summary

Childhood porphyrias are rare but crucial to identify. This review covers cutaneous porphyrias like erythropoietic protoporphyria and porphyria cutanea tarda that can appear in infants and children.

Area of Science:

Biochemistry
Genetics
Pediatrics

Background:

Porphyrias are rare metabolic disorders.
Childhood presentation of porphyrias is uncommon but significant.
Cutaneous porphyrias can manifest in infancy and childhood.

Purpose of the Study:

To review porphyrias presenting in infants and children.
To discuss the pathogenesis, genetics, and histopathology of these disorders.

Main Methods:

Literature review of childhood porphyrias.
Focus on cutaneous porphyrias presenting in early life.

Main Results:

Erythropoietic protoporphyria, congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and hereditary porphyria cutanea tarda can present in childhood.

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Understanding pathogenesis, histopathology, and genetics is key.

Conclusions:

Early recognition of childhood porphyrias is vital.
This review provides an overview of key porphyrias in pediatric populations.