Hartnup syndromeE72.02

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

Hartnup Disease; Hartnup disorder; Hereditary pellagra; pellagra-cerebellar-ataxia-renal aminoaciduria syndrome; pellagra-cerebellar-ataxia-renal-aminoaciduria syndrome

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

HistoryThis section has been translated automatically.

Baron et al., 1956

DefinitionThis section has been translated automatically.

Autosomal-recessive inherited disorder of tubular and enteral absorption of certain amino acids, especially tryptophane with cerebellar symptoms, light dermatosis and aminoaciduria.

Occurrence/EpidemiologyThis section has been translated automatically.

One of the most common hereditary disorders of amino acid transport. Prevalence: about 1/40.000 births.

EtiopathogenesisThis section has been translated automatically.

Autosomal recessive mutations of the "hartnup disorder" gene (HND gene; gene locus: 5p15) and consecutive defects in the transport of monoaminomonocarboxylic acids in the small intestine and kidneys with reduced renal absorption of neutral amino acids.

LocalizationThis section has been translated automatically.

Skin areas exposed to light.

Clinical featuresThis section has been translated automatically.

  • Skin symptoms: Seasonal pellagroid skin changes with redness, swelling and itching, poikiloderma.
  • Extracutaneous manifestations: cerebellar ataxia, psychic changes.

LaboratoryThis section has been translated automatically.

Aminoaciduria, indanuria.

Differential diagnosisThis section has been translated automatically.

pellagra; pellagroid; phototoxic dermatitis; photoallergic eczema; congenital poikiloderma; progeria-like syndromes.

TherapyThis section has been translated automatically.

Nicotinamide (e.g. Nicotinamide 200 Jenapharm) in high doses (50-300 mg/day). Protein-rich diet. Avoid greater exposure to the sun, sun protection. Monoamine oxidase inhibitors are contraindicated.

Progression/forecastThis section has been translated automatically.

Improvement with increasing age.

Note(s)This section has been translated automatically.

The name Hartnup comes from the family where the disease was first diagnosed.

LiteratureThis section has been translated automatically.

  1. Baron DN, Dent CE, Harris H, Hart EW, Jepson JB (1956) Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria and other bizarre biochemical features. Lancet II: 421-433
  2. Potter SJ et al (2002) Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5. J Inherite Metab Dis 25: 437-448

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer