Histidinemia
| Histidinemia | |
|---|---|
| Other names | Histidinuria |
 | |
| Histidine | |
| Specialty | Endocrinology  |
Histidinemia is a rare
Presentation
Histidinemia is considered
inborn error of metabolism.[2]
Molecular mechanism
Histidinemia occurs as the result of an
Diagnosis
Histidenemia is characterized by increased levels of histidine,
skin cells.[1] In Japan, neonatal screening was previously performed on infants within one month of birth; infants demonstrating a blood histidine level of 6 mg/dl or more underwent careful testing as suspected histidinemia cases.[6] A typical characteristic of histidinemia is an increase in the blood histidine levels from normal levels (70–120 μM) to an elevated level (290–1420 μM).[3] Further testing includes: observing histidine as well as imidazolepyruvic acid metabolites in the urine. However, neonatal urine testing has been discontinued in most places, with the exception of Quebec.[3]
Treatment
It has been suggested that a possible method of treatment for histidinemia is through the adoption of a diet that is low in histidine intake. However, the requirement for such dietary restrictions is typically unnecessary for 99% of all cases of histidinemia.[3]
Prevalence
Histidinemia is a rare autosomal recessive disorder. However, histidinemia is considered the most prevalent
inborn error of metabolism[3][5] with a reported incidence of 1:8600 (Quebec); 1:180,000 (New York) and 1:9600 (Japan); and an average of 1:12,000 observed in the neonatal screening of over 20 million newborns.[3]
See also
- Prolinemia
- Sarcosinemia
- Tyrosinemia