Hartnup Disease

Overview

An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about Hartnup Disease

Topic type

Condition

Category

Urology / Fertility

MeSH classification

C10.228.140.163.100.355|C12.050.351.968.419.815.885.625|C12.200.777.419.815.885.457|C12.950.419.815.885.625|C16.320.565.151.355|C16.320.565.189.355|C16.320.831.885.457|C18.452.132.100.355|C18.452.648.151.355|C18.452.648.189.355

Preparing for an appointment about Hartnup Disease

If you are speaking with a healthcare professional about Hartnup Disease, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

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