Hartnup disease is a metabolic disorder which has an effect on the vitamins of the body. In this condition, transfer of amino acids, for example Tryptophan and Histidine, to the kidneys as well as the small intestine get affected. This condition is called so because it was first detected in Hartnup family in London and it was described by Baron in 1956. Out of 8 members in the family, 4 showed the signs of Cerebellar Ataxia and Aminociduria; these are the symptoms of the Hartnup disease or Hartnup Disorder.
Hartnup Disease Symptoms and Causes
Mostly people don’t show any major symptoms or health problems when they’re suffering from this condition; some vitamin deficiencies are seen though. In severe cases, skin rashes, trouble in muscle coordination and mental disorders are generally observed. Deficiency of Nicotinamide which is a type of Vitamin B and common in people with this condition. Moreover, extreme insufficiency of Vitamin B leads to skin problems, neurological problems, poor coordination in the body, muscular fatigue and tremors. Other than that, people also suffer from Chronic Dermatitis which is basically redness and itchiness on the body and it tends to get worse whenever the skin is directly exposed to the sun rays. In exceptional cases, dementia is a potential threat too. If the condition is not treated at the right stage and if it carries on since infancy, it could lead to irrevocable retardation.
It may be asymptomatic in most individuals but when the symptoms show, it is usually in the childhood. These include – short height, mood changes, diarrhea, photosensitivity, rashes and neurological problems.
Hartnup disease affects kids between 3 to 5 years of age and is most probably the common amino acid disorder. It is a genetic disease – inherited from parents who both have mutated copy of the gene, SLC6A19. If the child gets it from both of his parents, it can affect him terribly. All the healthy individuals decompose the amino acids and they are then transported to their livers and kidneys but same is not the case with people carrying this gene. The presence of this gene in their body gets in the way of metabolizing the amino acids and consequently, they are ejected from the body via urine as waste.
Hartnup Disease Diagnosis and Treatments
Doctors usually carry out urine tests to check for increase in amino acids in the body. Blood samples are also taken to detect any vitamin deficiency that the person could be suffering from. Also, brain scans and genetic testing are also recommended by doctors if they suspect there are other causes for those symptoms.
Moderate symptoms in this disease are treated usually by simply taking supplements of Nicotinamide and Vitamin B and also diet rich in proteins is advised. Once the vitamins kick in, the neurological problems subside automatically as the vitamin levels rise up to their normal level. 50-300mg of Nicotinic acids and Nicotinamide everyday give relief from the neurological and other symptoms. Sunlight is one of the major trigger of the symptoms and hence, sunscreen should be used at all times when facing direct sun and the garments need to be fully protective. Doctors also prescribe creams to people with continue rash problems. Psychiatric problems, however, require proper treatment and mood stabilizers and antidepressants are provided to such patients to relieve them.
Hartnup Disease Complications and Prevention
The condition has no major complications but in rare cases, the individual could suffer from skin rashes, psychiatric problems, uncoordinated movements and changes in the skin pigmentation. Life expectancy of the person is not affected by it either – it doesn’t shorten the lifespan of the patient normally and only in severe cases the reversible neurological problems become threatening. Furthermore, acute psychiatric problems cause death of the victims as well. But the good thing about condition is that the attacks in this illness diminish with the aging of the person.
Though genetic, people can still prevent this condition by taking the help of genetic counseling and taking in a diet filled in Vitamin B, Nicotinamide and basically, proteins which help in preventing the deficiency of amino acid. In case you suspect that you have symptoms of the disease or if you have the family history of this condition, you should consult a doctor as soon as possible. It is utmost important for people planning pregnancy to go for medical counseling if they have the Hartnup Disease and want a healthy life for their offspring.