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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...

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

Jaundice

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

Pedigree Analysis

Pedigree Analysis

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[Asymptomatic classical hereditary xanthinuria type 1].

Renata Yakubov¹, Vered Nir, Eiass Kassem

¹Department of Pediatrics, Hillel Yaffe Medical Center, Hadera.

|September 21, 2012

Summary

This summary is machine-generated.

Hereditary xanthinuria, a rare genetic disorder, was incidentally discovered in an asymptomatic girl due to extremely low uric acid levels. This case prompts further discussion on patient follow-up and dietary interventions for this condition.

Area of Science:

Genetics
Metabolic Disorders
Rare Diseases

Background:

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Hereditary xanthinuria is a rare autosomal recessive disorder.
It typically presents with early urolithiasis, but can also manifest as rheumatoid arthritis-like symptoms or defects in bone, hair, and teeth formation.
The disease is particularly noted in Bedouin populations in Israel, with approximately 150 cases reported globally, two-thirds of which are asymptomatic.