Histidinemia is a condition caused by an inborn metabolic error mechanism. It is caused by a gene-induced deficiency of the enzyme histidase, which processes the amino acid histamine in the body.
- The disease is more or less asymptomatic in its presentation.
- It is usually caught during the routine neonatal screening procedure and other ailments.
- The disease presents symptoms like excessive production of histidine amino acid in the urine.
- When the condition is presented along with any medical complication soon after birth, it can lead to some developmental disabilities and low intelligent quotient in the patients.
- Histidinemia is a rare genetic condition that is often without any symptoms or cure.
- It is caused due genetic mutations and other changes. So this disease cannot be treated or prevented.
- If the persons tend to show the symptoms of the disease, the doctors may recommend the patient to go on a diet with a low histidine level.
- This will reduce the histidine level in the blood.
- When a histidnemia patient consumes a histidine-rich diet, the body will not have the ability to process all of them.
- The second and most important part of the treatment plan is genetic counseling and planning of pregnancies to avoid further instances of this disease in their progeny in the future.
- Consanguineous marriages are also recommended to be avoided by the patients since it is a recessive condition.
Intellectual disability,Behavioral problems,Learning disorders
Therapies,Histidine-restricted diet,Genetic counseling
Mostly asymptomatic,Sometimes show hyperactivity,Speech impediment,Developmental delay,Learning difficulties,Sometimes mental retardation