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Zpráva o onemocněních · Metabolic

Hartnup Disease (SLC6A19)

Whole genome sequencing reads the SLC6A19 gene for inherited changes that affect how the gut and kidneys absorb certain amino acids, including tryptophan, which can lead to a sun-sensitive rash.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

An inherited difference in how the gut and kidneys absorb certain amino acids, including tryptophan. Most people have no symptoms, but some develop a sun-sensitive rash or episodes of unsteadiness. It is caused by changes in both copies of SLC6A19.

Hartnup disease is an inherited difference in how the gut and kidneys absorb certain amino acids, including tryptophan. Most people have no symptoms beyond high levels of amino acids in the urine. Some develop a sun-sensitive rash or episodes of unsteadiness, usually in childhood.

The condition is caused by changes in both copies of SLC6A19, which encodes a transporter that absorbs neutral amino acids in the gut and kidneys. Large amounts of these amino acids are lost in the urine, which can reduce the body's supply of tryptophan for making niacin, vitamin B3.

When symptoms occur, they are often triggered by illness, stress or poor diet. Episodes can include a rash on sun-exposed skin, unsteady movement or temporary psychiatric symptoms such as depression. These features tend to go away once the trigger is removed, although the amino acids remain in the urine.

The condition is inherited in an autosomal recessive way. Parents of an affected child are usually both carriers. Most people can get the nutrients they need from a well-balanced diet, and genetic counselling and carrier testing can be offered to families.

Onemocnění, které analyzujeme

Autozomálně recesivní

Caused by changes in both copies of the SLC6A19 gene, which encodes a transporter that absorbs neutral amino acids in the gut and kidney. Large amounts of these amino acids are lost in the urine, which can reduce the body's supply of tryptophan for making niacin (vitamin B3).

Příznaky a projevy

Most people with high levels of amino acids in the urine have no other symptoms. When symptoms occur, usually in childhood and often triggered by poor diet, illness or stress, they include a skin rash on sun-exposed skin. Less often there are episodes of unsteady movement (cerebellar ataxia) or psychiatric symptoms such as depression, which are usually temporary.

Co se diagnózou změní

Most people can get the nutrients they need from a well-balanced diet, and episodes are often triggered by illness, stress or poor diet. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered.

Analyzované geny

Známé také jako

aminoaciduria, Hartnup type; Hartnup disorder; HND

MONDO:0009324OMIM 234500Orphanet 2116MedGen 6723Zdroje: [1][2][3][4]

Proč sekvenování celého genomu

Hartnup disease is often symptom-free and a well-balanced diet is usually enough, but a genetic diagnosis still guides advice for families. Whole genome sequencing reads SLC6A19 in one test.

Triggers matter most

Episodes are often triggered by illness, stress or poor diet, and managing these triggers is part of care for people who have symptoms. Most people can meet their nutritional needs with a well-balanced diet.

Carrier testing for relatives

Parents of an affected child are usually both carriers, so genetic counselling and carrier testing for relatives can be offered. These steps can be taken once the family's SLC6A19 changes are known.

Reference

  1. Bröer S, 2009. The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition. IUBMB life
  2. Kravetz Z, Schmidt-Kastner R, 2023. New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19. IBRO neuroscience reports
  3. SLC6A19 gene. MedlinePlus Genetics
  4. Hartnup disease. MedlinePlus Genetics

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Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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