About hartnup disorder

What is hartnup disorder?

Hartnup disease is a rare metabolic disorder inherited as an autosomal recessive trait. It involves an inborn error of amino acid metabolism as well as niacin deficiency. Factors that may precipitate acute attacks of this disorder may include poor nutrition, exposure to sunlight, sulphonamide medications and/or psychological stress. Hartnup disease may be marked by skin problems, coordination impairment, vision problems, mild mental retardation, gastrointestinal problems, and central nervous system abnormalities. Frequency of attacks usually diminishes with age.

What are the symptoms for hartnup disorder?

The signs and symptoms of Hartnup Disorder differ significantly from person to person.

  • The majority of those affected lack any noticeable symptoms (asymptomatic).
  • When symptoms appear, they often do so between the ages of 3 and 9. Rarely, do symptoms not start to show themselves till adulthood.
  • On the face, arms, extremities, and other exposed parts of the skin, red, scaly, light-sensitive (photosensitive) rashes are the most typical sign.
  • There can be a wide range of neurological abnormalities, such as spasticity, which is characterized by increased muscle tone and stiffness of the muscles, especially those of the legs, and sudden episodes of impaired muscle coordination (ataxia), an unsteady gait, impaired speech articulation (dysarthria), tremors of the hands and tongue, and dysarthria.
  • There have been reports of some children having a modest intellectual impairment and delayed cognitive development.
  • It is unclear, however, if these symptoms are associated with Hartnup disease or whether they simply happened in the same person and were mistakenly linked to the condition.
  • Similar symptoms, though possibly unrelated, include Seizures, Dizziness, trembling, hypotonia (loss of muscular tone), Headaches, vertigo, and/or vertigo.
  • Some of the affected people may exhibit psychiatric disorders, such as emotional instability, such as abrupt mood swings, depression, disorientation, anxiety, delusions, and/or hallucinations.


Conditions
Causes the gene that regulates your body's absorption and reabsorption of amino acids to mutate
Drugs
Nicotinamide (niacinamide),Niacin (nicotinic acid)
Symptoms
Skin rash,Anxiety,Rapid mood swings,Delusions,Hallucinations,Intention tremor,Aberrant muscular tone,Where your muscles tighten or lose tone,Short stature,Sensitivity to light,Speech difficulties

What are the causes for hartnup disorder?

The SLC6A19 gene is altered or mutated, to cause Hartnup disorder.

  • The instructions for making proteins, which are essential to numerous bodily processes, are provided by genes.
  • A gene mutation might result in the production of a protein that is defective, ineffective, or nonexistent.
  • This can have an impact on a variety of body organ systems depending on the specific protein's functions.
  • Proteins are made up of amino acids, which are necessary for healthy growth and development.
  • Due to the underlying genetic abnormality that causes Hartnup disease, amino acids cannot be adequately absorbed by the intestines or reabsorbed by the kidney, which causes excessive amounts of amino acids to be lost through the passage of urine.
  • As a result, the body has fewer amino acids, which are used to make proteins, available.
  • The symptoms of Hartnup disease are thought to be caused by a deficiency of the amino acid tryptophan.
  • Tryptophan is required for the production (synthesis) of nicotinamide, a vitamin that is also added to diets (also known as vitamin B3).
  • Poor nutrition over an extended length of time, fever, exposure to sunshine, sulphonamide drugs, illness, and/or psychological stress are examples of precipitating events that may result in acute bouts of Hartnup disease.


Conditions
Causes the gene that regulates your body's absorption and reabsorption of amino acids to mutate
Drugs
Nicotinamide (niacinamide),Niacin (nicotinic acid)
Symptoms
Skin rash,Aanxiety, Rapid mood swings,Delusions,Hallucinations,Intention tremor,Aberrant muscular tone,Where your muscles tighten or lose tone,Short stature,Sensitivity to light,Speech difficulties

What are the treatments for hartnup disorder?

Only urine analysis allows for a clear diagnosis because symptoms vary so much.

  • Selected pathology centers will perform the analysis upon pediatricians' request.
  • The test is based on chromatography and mass spectroscopy detection of increased amino acids in the urine.
  • In rare circumstances, molecular genetic testing can support a Hartnup disorder diagnosis.
  • Although typically not required for a diagnosis, molecular genetic testing can identify genetic changes in the SLC19A6 gene, which is known to be the source of the disorder.
  • Treatment is typically not necessary for Hartnup disease patients who don't show any symptoms.
  • A high protein diet, limiting excessive sun exposure, and avoiding certain medications, such as sulphonamides, can all help to decrease or prevent symptomatic episodes that may be brought on by low protein diets (vegan or otherwise).
  • Niacin or nicotinamide supplementation is beneficial for avoiding episodes of Hartnup illness.
  • Treatment with nicotinamide during a symptomatic episode may occasionally be advised.
  • The substance L-tryptophan ethyl ester, which restored tryptophan levels in both the serum and cerebral fluid, has been shown to ameliorate symptoms in at least one patient, according to the medical literature.
  • Other forms of treatment are supportive and symptomatic. Families who are impacted may benefit from genetic counseling.


Conditions
Causes the gene that regulates your body's absorption and reabsorption of amino acids to mutate
Drugs
Nicotinamide (niacinamide),Niacin (nicotinic acid)
Symptoms
Skin rash,Aanxiety, Rapid mood swings,Delusions,Hallucinations,Intention tremor,Aberrant muscular tone,Where your muscles tighten or lose tone,Short stature,Sensitivity to light,Speech difficulties

What are the risk factors for hartnup disorder?

A rare genetic illness called Hartnup disease involves an inborn mistake in the metabolism of amino acids.

  • The SLC6A19 gene is altered or mutated, to cause Hartnup disorder.
  • The instructions for making proteins, essential to numerous bodily processes, are provided by genes.
  • A gene mutation might result in the production of a protein that is defective, ineffective, or nonexistent.
  • This can have an impact on a variety of body organ systems depending on the specific protein's functions.
  • The inheritance of these changes is autosomal recessive. The condition of the two copies of a gene, one acquired from the father and one from the mother, determines the majority of genetic illnesses.
  • When a person receives two copies of an atypical gene for the same trait, one from each parent, recessive genetic diseases result.
  • A person will be a carrier of the disease but will not exhibit any symptoms if they inherit one normal gene and one disease gene.
  • With each pregnancy, there is a 25% chance that two carrier parents will pass the mutated gene, resulting in an afflicted child.
  • Each pregnancy carries a 50% chance of passing the gene to the unborn child. A child has a 25% chance of inheriting normal genes from both parents. Both men and women are at the same level of danger.


Conditions
Causes the gene that regulates your body's absorption and reabsorption of amino acids to mutate
Drugs
Nicotinamide (niacinamide),Niacin (nicotinic acid)
Symptoms
Skin rash,Aanxiety, Rapid mood swings,Delusions,Hallucinations,Intention tremor,Aberrant muscular tone,Where your muscles tighten or lose tone,Short stature,Sensitivity to light,Speech difficulties

Is there a cure/medications for hartnup disorder?

People who have Hartnup disorder and don't show symptoms typically, don't need medical attention. Low protein diets (vegan or otherwise) can set off symptomatic episodes, which can be lessened or prevented by eating a high protein diet, limiting sun exposure, and avoiding certain medications, such as sulphonamides. Niacin or nicotinamide supplements may be helpful in reducing the risk of episodes of Hartnup illness.

  • Treatment with nicotinamide during a symptomatic episode may occasionally be advised.
  • According to the medical literature, the substance L-tryptophan ethyl ester, which restored tryptophan levels in both the serum and cerebral fluid, has been shown to ameliorate symptoms in at least one patient.
  • Other forms of treatment are supportive and symptomatic. Families who are impacted may benefit from genetic counseling.
  • By eating adequate protein and supplementing their diets with niacinamide or niacin, people with Hartnup illness can lessen the frequency and severity of attacks (a B-complex vitamin very similar to niacinamide).
  • To treat attacks, people may take nicotinamide. Those who have Hartnup illness should also stay away from the sun and sulfonamide-containing drugs.
  • People with Hartnup illness can typically lead normal lives. However, sometimes the condition develops complications.
  • But it's also possible that this disorder will cause changes in your skin's color, difficulty coordinating your motions, or psychiatric issues.


Conditions
Causes the gene that regulates your body's absorption and reabsorption of amino acids to mutate
Drugs
Nicotinamide (niacinamide),Niacin (nicotinic acid)
Symptoms
Skin rash,Aanxiety, Rapid mood swings,Delusions,Hallucinations,Intention tremor,Aberrant muscular tone,Where your muscles tighten or lose tone,Short stature,Sensitivity to light,Speech difficulties

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