Xeroderma pigmentosum

Xeroderma pigmentosum

Block 1

Block 1

Glycolysis
Citric acid cycle
Electron transport chain and oxidative phosphorylation
Gluconeogenesis
Glycogen metabolism
Pentose phosphate pathway
Physiological changes during exercise
Amino acid metabolism
Nitrogen and urea cycle
Fatty acid synthesis
Fatty acid oxidation
Ketone body metabolism
Cholesterol metabolism
Essential fructosuria
Hereditary fructose intolerance
Galactosemia
Pyruvate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Lactose intolerance
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Leukodystrophy
Metachromatic leukodystrophy (NORD)
Krabbe disease
Gaucher disease (NORD)
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Fabry disease (NORD)
Tay-Sachs disease (NORD)
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Cystinosis
Hartnup disease
Alkaptonuria
Ornithine transcarbamylase deficiency
Phenylketonuria (NORD)
Cystinuria (NORD)
Homocystinuria
Maple syrup urine disease
Abetalipoproteinemia
Familial hypercholesterolemia
Hypertriglyceridemia
Hyperlipidemia
Disorders of carbohydrate metabolism: Pathology review
Disorders of fatty acid metabolism: Pathology review
Dyslipidemias: Pathology review
Glycogen storage disorders: Pathology review
Lysosomal storage disorders: Pathology review
Disorders of amino acid metabolism: Pathology review
Carbohydrates and sugars
Fats and lipids
Proteins
Nuclear structure
DNA structure
Transcription of DNA
Translation of mRNA
Gene regulation
Epigenetics
Amino acids and protein folding
Protein structure and synthesis
Nucleotide metabolism
DNA replication
Lac operon
DNA damage and repair
Cell cycle
Mitosis and meiosis
DNA mutations
Lesch-Nyhan syndrome
Orotic aciduria
Adenosine deaminase deficiency
Xeroderma pigmentosum
Li-Fraumeni syndrome
Bloom syndrome
Fanconi anemia
McCune-Albright syndrome
Acute radiation syndrome
Purine and pyrimidine synthesis and metabolism disorders: Pathology review
Mendelian genetics and punnett squares
Hardy-Weinberg equilibrium
Inheritance patterns
Independent assortment of genes and linkage
Evolution and natural selection
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
Angelman syndrome
Beckwith-Wiedemann syndrome
Cri du chat syndrome
Williams syndrome
Alagille syndrome (NORD)
Achondroplasia
Polycystic kidney disease
Familial adenomatous polyposis
Hereditary spherocytosis
Marfan syndrome
Multiple endocrine neoplasia
Neurofibromatosis
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Cystic fibrosis
Hemochromatosis
Primary ciliary dyskinesia
Sickle cell disease (NORD)
Alpha-thalassemia
Beta-thalassemia
Wilson disease
Alport syndrome
X-linked agammaglobulinemia
Hemophilia
Muscular dystrophy
Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review
Cell signaling pathways

Flashcards

Xeroderma pigmentosum

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Key Takeaways

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder that affects the body's ability to repair damage to DNA caused by ultraviolet (UV) radiation. Individuals with XP are extremely sensitive to UV radiation and are at a high risk for developing skin cancers like basal cell carcinoma, squamous cell carcinoma, and melanoma. They may also develop eye problems, including photophobia, conjunctivitis, and corneal ulcers. Symptoms of XP can include dry, scaly, and pigmented skin, and uneven pigmentation. In severe cases, neurological symptoms such as developmental delay, progressive hearing loss, and cognitive impairment can also occur. Treatment primarily focuses on preventing(avoiding exposure to UV radiation by staying indoors, wearing protective clothing and sunscreen, and using protective eyewear) and managing symptoms.