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Karyotyping

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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...

Blood Studies I: ABG and VBG

Blood Studies I: ABG and VBG

Blood studies are critical in the medical field, enabling healthcare professionals to assess a patient's health status accurately. This page will focus on two significant blood studies: Arterial Blood Gas (ABG) and Venous Blood Gas (VBG).
Arterial Blood Gas (ABG)
Arterial Blood Gas (ABG) studies are crucial for assessing the lungs' ability to supply oxygen and remove carbon dioxide, reflecting the patient's ventilation status. They also help understand the kidneys' capacity to...

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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

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A Growth Chart for KBG Syndrome

Karen J Low^1,2, Elena Martinez-Cayuelas³, Berta Almoguera^4,5

¹Centre for Academic Child Health, University of Bristol, Bristol, UK.

American Journal of Medical Genetics. Part A

|January 16, 2026

Summary

No abstract available in PubMed .

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