Histidinaemia: a benign metabolic disorder.
نویسندگان
چکیده
منابع مشابه
Histidinaemia: a benign metabolic disorder.
Histidinaemia is a relatively common inherited metabolic disorder with an incidence similar to phenylketonuria. This paper reports the long term outcome of patients diagnosed by newborn screening in the north west of England. Between 1966 and 1990, 108 infants were diagnosed as having histidinaemia by a regional neonatal screening programme (incidence 1:11,083). A further five children were det...
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Histidinaemia, an inherited disorder of histidine metabolism, was first described by Ghadimi, Partington, and Hunter in 1961. The principal metabolic pathway for histidine is through urocanic acid and formiminoglutamic acid (FIGLU) to glutamic acid (Fig. 1). Zannoni and La Du (1963) demonstrated that histidase, the enzyme necessary for the conversion of histidine to urocanic acid, was absent fr...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1996
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.74.4.343