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Histidinaemia: a benign metabolic disorder
W K Lam1, M A Cleary, J E Wraith
1Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury.
Archives of Disease in Childhood
|April 1, 1996
Summary
Histidinaemia, an inherited metabolic disorder, is often benign. Long-term outcomes show no correlation between histidine levels and development, suggesting treatment is unnecessary.
Area of Science:
- Metabolic disorders
- Genetics
- Newborn screening
Background:
- Histidinaemia is an inherited metabolic disorder with an incidence comparable to phenylketonuria.
- Neonatal screening programs have identified cases, allowing for long-term outcome studies.
Purpose of the Study:
- To report the long-term outcomes of histidinaemia patients diagnosed via newborn screening.
- To evaluate the impact of a low histidine diet on developmental quotients (DQ) and intelligence quotients (IQ).
Main Methods:
- A cohort of 113 infants diagnosed with histidinaemia between 1966 and 1990 was followed.
- Developmental quotients (DQ) and intelligence quotients (IQ) were assessed at various ages.
- Plasma histidine levels were monitored throughout the study period.
Main Results:
- Neither DQ nor IQ correlated with plasma histidine levels at diagnosis or over time.
- Growth was normal in all assessed patients.
- No apparent benefit was observed from a low histidine diet, and no excess clinical symptoms were noted.
Conclusions:
- Histidinaemia appears to be a benign metabolic disorder.
- Current evidence suggests that treatment for histidinaemia is not required.