Hartnup disease
Hartnup disease
Bioquímica
Bioquímica y metabolismo
Metabolismo de los aminoácidos
Ciclo del nitrógeno y la urea
Ciclo del ácido cítrico
Cadena de transporte de electrones y fosforilación oxidativa
Gluconeogénesis
Metabolismo del glucógeno
Glucólisis
Vía de las pentosas fosfato
Cambios fisiológicos durante el ejercicio
Metabolismo del colesterol
Oxidación de los ácidos grasos
Síntesis de ácidos grasos
Metabolismo de los cuerpos cetónicos
Trastornos metabólicos
Alkaptonuria
Cistinuria (NORD)
Hartnup disease
Homocistinuria
Enfermedad de la orina con olor a jarabe de arce
Ornithine transcarbamylase deficiency
Fenilcetonuria (NORD)
Essential fructosuria
Galactosemia
Deficiencia de glucosa-6-fosfato deshidrogenasa (G6PD)
Hereditary fructose intolerance
Intolerancia a la lactosa
Pyruvate dehydrogenase deficiency
Abetalipoproteinemia
Hipercolesterolemia familiar
Hyperlipidemia
Hipertrigliceridemia
Enfermedad por almacenamiento de glucógeno tipo I
Enfermedad por almacenamiento de glucógeno tipo II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Enfermedad de almacenamiento de mucopolisacáridos de tipo 1 (síndrome de Hurler)
Mucopolisacaridosis de tipo 2 (Síndrome de Hunter) (NORD)
Enfermedad de Fabry (NORD)
Enfermedad de Gaucher (NORD)
Krabbe disease
Leucodistrofia
Leucodistrofia metacromática (NORD)
Enfermedad de Niemann-Pick tipo C
Enfermedad de Niemann-Pick tipos A y B (NORD)
Enfermedad de Tay-Sachs (NORD)
Cistinosis
Trastornos del metabolismo de los aminoácidos: Revisión de la patología
Trastornos del metabolismo de los carbohidratos: Revisión de la patología
Trastornos del metabolismo de los ácidos grasos: Revisión de la patología
Dislipidemias: revisión de la patología
Trastornos de almacenamiento de glucógeno: Revisión de la patología
Trastornos de almacenamiento lisosómico: revisión de la patología
Flashcards
Hartnup disease
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Preguntas
Preguntas del estilo USMLE® Step 1
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An 11-year-old boy is brought in by his parent to the clinic when she noticed a skin rash over his chest and arms over the past 2 weeks. The boy has noticed that the rash becomes pruritic and painful to touch when he goes outside during recess at school. He also complains of diarrhea over the past several weeks. His parent states his developmental history has been unremarkable except for similar rashes when he was 5 years old that resolved spontaneously. He takes no medications and has not received treatment for any condition in the past. Temperature is 37.0°C (98.6°F), pulse is 72/min, respirations are 18/min, and blood pressure is 115/72 mmHg. BMI is 19 kg/m2. Physical examination reveals well-defined, hyperpigmented, hyperkeratotic, symmetrical, thick scaly plaques surrounded by erythema on the dorsa of the hands, arms, feet, up to the knees, and along the sides of the neck. Urine studies are shown below:
Genetic testing is performed and the diagnosis is confirmed. Which of the following is the most likely pathological mechanism of this patient’s condition?
| Urine | |
| Erythrocytes | 0/hpf |
| Leukocytes | 10/hpf |
| Sediment | None |
| Urine chromatography | Neutral amino acids |
Genetic testing is performed and the diagnosis is confirmed. Which of the following is the most likely pathological mechanism of this patient’s condition?
Aspectos destacados
en inglés
Hartnup disease is a rare autosomal recessive disorder in which a transport protein necessary for the absorption of neutral amino acids is defective. So, Hartnup disease is associated with impaired absorption of neutral amino acids such as tryptophan, which is responsible for synthesizing vitamin B3. This results in vitamin B3 deficiency, presenting symptoms of pellagra ( diarrhea, dermatitis, dementia), cerebellar ataxia, and seizures.