What is Hartnup Disease?

What is Hartnup Disease?

• Hartnup Disease: A rare metabolic disorder involving an error in the transport of neutral amino acid and characterized by mental retardation, rash due to light sensitivity and cerebellar ataxia.
• Hartnup Disease: A disorder of amino acid transport characterized by the childhood (or rarely adult) onset of photosensitive dermatitis and intermittent neurologic symptoms. Ataxia, personality changes, migraine headaches, and photophobia may occur periodically. The disorder results from impaired sodium-dependent transport of neutral amino acids across the brush border membrane of the small intestine and renal tubular epithelium. (From Menkes, Textbook of Child Neurology, 5th ed, pp59-60)
  Source - Diseases Database

Hartnup Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Hartnup Disease, or a subtype of Hartnup Disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Hartnup Disease as a "rare disease".
Source - Orphanet

Hartnup Disease: Introduction

How serious is Hartnup Disease?

Complications of Hartnup Disease: see complications of Hartnup Disease

What causes Hartnup Disease?

Causes of Hartnup Disease: see causes of Hartnup Disease

What are the symptoms of Hartnup Disease?

Symptoms of Hartnup Disease: see symptoms of Hartnup Disease

Complications of Hartnup Disease: see complications of Hartnup Disease

Onset of Hartnup Disease: birth

Hartnup Disease: Testing

Diagnostic testing: see tests for Hartnup Disease.

Misdiagnosis: see misdiagnosis and Hartnup Disease.

How is it treated?

Treatments for Hartnup Disease: see treatments for Hartnup Disease
Research for Hartnup Disease: see research for Hartnup Disease

Name and Aliases of Hartnup Disease

Main name of condition: Hartnup Disease

aminoaciduria [pellagra - cerebellar ataxia], H disease, tryptophan pyrrolase deficiency, HND

HND, HND
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Research the causes of these diseases that are similar to, or related to, Hartnup Disease:

• Autosomal recessive metabolic disorder
• Pellagra
• Dermatitis
• Dementia
• Diarrhoea
• Cystinosis
• Cystinuria
• Citrullinemia

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• Online Medical Textbooks for Hartnup Disease
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• Causes of Hartnup Disease
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