Histidinemia

Further Case of Histidinaemia

“…Ghadimi et al (1962) first described a case of histidinaemia and demonstrated an excess of histidine in plasma and urine. Subsequently Auerbach et al (1962) showed the defect to be due to a deficiency of the enzyme histidase (Fig. 1), and agreed with Ghadimi et al that the positive reaction with ferric chloride resulted from the presence of imidazole pyruvic acid in the urine.…”

“…Initially, cases were reported of patients who were mentally normal but had a speech defect (Auerbach et al, 1962;La Du et al, 1963a, 1963bWoolf, 1965). Subsequently the cases of severely physically and mentally handicapped patients who suffered from intercurrent infections and convulsions were reported (Davies and Robinson, 1963 ;Holton et al, 1964).…”

Disorders of Amino-Acid Transport

“…There are four hereditary diseases which are examples of an overflow amino-aciduria involving amino-acids that are normally almost completely reabsorbed by the renal tubules and therefore have a low renal clearance: phenylketonuriaphenylalanine (F0lling, 1934 ;Knox, 1960) ; maple-syrup-urine disease-the branched-chain amino-acids valine, leucine, and isoleucine (Menkes et al, 1954;Dancis and Levitz, 1960); histidinaemia-histidine (Ghadimi et al, 1961 ;Auerbach et al, 1962;Davies and Robinson, 1963;La Du et al, 1963); and glycinaemia-glycine (Childs et al, 1961). The first three have certain features in common (Table II).…”

Differential regulation of two histidine ammonia-lyase genes during Xenopus development implicates distinct functions during thyroid hormone-induced formation of adult stem cells

“…Its deficiency has been implicated to be the underlying cause for histidinemia in human and mouse [31-35], which in human can lead to abnormal development in children, including mental retardation (http://en.wikipedia.org/wiki/Histidinemia) [31,32,34,35]. How histidase deficiency leads to such developmental abnormalities remains to be investigated.…”