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Histidinemia in Two Successive Generations FREE

Cecilio Bruckman, MD; Helen K. Berry; Raymond J. Dasenbrock, MD
[+] Author Affiliations

Received for publication Oct 1, 1969.

Reprint requests to the Children's Hospital Research Foundation, 240 Elland Ave, Cincinnati 45229 (Mrs. Berry).


Am J Dis Child. 1970;119(3):221-227. doi:10.1001/archpedi.1970.02100050223007.
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Nine new cases of histidinemia have been found in four different sibships and in two successive generations in the same family. No history of consanguinity is present. The father of the propositus is normal. The pattern of inheritance appears to be autosomal dominant. Since these patients have absent or decreased skin histidase activity and they excrete decreased amounts of N-formiminoglutamic acid following histidine loading, they probably represent an intermediate genotype between the typical histidinemics and individuals with normal skin histidase.

REFERENCES

Zannoni, V.G., and LaDu, B.N.:  Determination of Histidine a-deaminase in Human Stratum Corneum and Its Absence in Histidinemia , Biochem J 88:160-162 ( (July) ) 1963;.
LaDu, B.N., et al:  Clinical and Biochemical Studies on Two Cases of Histidinemia , Pediatrics 32:216-227 ( (Aug) ) 1963;.
Woody, N.C.; Snyder, C.H.; and Harris, J.A.:  Histidinemia , Amer J Dis Child 110:606-613 ( (Dec) ) 1965;.
Cain, A.R., and Holton, J.B.:  Histidinemia: A Child and His Family , Arch Dis Child 43:62-68 ( (Feb) ) 1968;.
Auerbach, V.H., et al:  Histidinemia , J Pediat 60: 487-497 ( (April) ) 1962;.
Ghadimi, H.; Partington, M.W.; and Hunter, A.:  A Familial Disturbance of Histidine Metabolism , New Eng J Med 265:221-224 ( (Aug 3) ) 1961;.
Ghadimi, H.; Partington, M.W.; and Hunter, A.:  Inborn Error of Histidine Metabolism , Pediatrics 29:714-728 ( (May) ) 1962;.
Auerbach, V.H.; DiGeorge, A.M.; and Carpenter, G.G.: " Histidinemia ," in Nyhan, W.L. (ed.): Amino Acid Metabolism and Genetic Variation , New York: The Blakiston Division, McGraw-Hill Book Co., 1967;, pp 145-160.
Ghadimi, H., and Zischka, R.: " Histidinemia ," in Nyhan, W.L. (ed.): Amino Acid Metabolism and Genetic Variation , New York: The Blakiston Division, McGraw-Hill Book Co., 1967;, pp 133-143.
Andrews, B.F.; Crosby, P.F.; and Angel, C.R.:  Histidinemia, a New Metabolic Disorder , Southern Med J 55:1326 ( (Dec) ) 1962;.
Hudson, F.P.; Dickinson, R.A.; and Ireland, J.T.:  Experiences in the Detection and Treatment of Phenylketonuria , Pediatrics 31:47-57 ( (Jan) ) 1963;.
Davies, H.E., and Robinson, M.J.:  A Case of Histidinemia , Arch Dis Child 38:80-82 ( (Feb) ) 1963;.
Snyder, S.H., et al:  Metabolism of 2-C14-Labeled L-Histidine in Histidinemia , J Clin Endocr 23:594-597 ( (June) ) 1963;.
Shaw, K.N.F., et al:  Histidinemia , abstracted, J Pediat 63:720 ( (Oct) ) 1962;.
Gerritsen, F.: "Histidinemia and Mental Retardation," in Øster, J. (ed.): Proceedings of the International Copenhagen Congress on the Scientific Study of Mental Retardation, Copenhagen, Denmark, August 7-14, 1964, Copenhagen: Statens Andssvageforsorg Falkoner, 1964, vol 1, pp 94-95.
Holton, J.B.; Lewis, F.J.W.; and Moore, G.R.:  Biochemical Investigation of Histidinemia , J Clin Path 17:671-675 ( (Nov) ) 1964;.
Clarance, G.A., and Bowman, J.K.:  Further Case of Histidinemia , Brit Med J 5494:1019-1020 ( (April 23) ) 1966;.
Galamon, T., and Szulc-Kuberska, J., cited by Auerbach, V.H.6
Wadman, S.K., et al:  Three New Cases of Histidinemia , Acta Paediat Scand 56:485-492 ( (Sept) ) 1967;.
LaDu, B.N.:  Histidinemia: Current Status , Amer J Dis Child 113:88-92 ( (Jan) ) 1967;.

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References

Zannoni, V.G., and LaDu, B.N.:  Determination of Histidine a-deaminase in Human Stratum Corneum and Its Absence in Histidinemia , Biochem J 88:160-162 ( (July) ) 1963;.
LaDu, B.N., et al:  Clinical and Biochemical Studies on Two Cases of Histidinemia , Pediatrics 32:216-227 ( (Aug) ) 1963;.
Woody, N.C.; Snyder, C.H.; and Harris, J.A.:  Histidinemia , Amer J Dis Child 110:606-613 ( (Dec) ) 1965;.
Cain, A.R., and Holton, J.B.:  Histidinemia: A Child and His Family , Arch Dis Child 43:62-68 ( (Feb) ) 1968;.
Auerbach, V.H., et al:  Histidinemia , J Pediat 60: 487-497 ( (April) ) 1962;.
Ghadimi, H.; Partington, M.W.; and Hunter, A.:  A Familial Disturbance of Histidine Metabolism , New Eng J Med 265:221-224 ( (Aug 3) ) 1961;.
Ghadimi, H.; Partington, M.W.; and Hunter, A.:  Inborn Error of Histidine Metabolism , Pediatrics 29:714-728 ( (May) ) 1962;.
Auerbach, V.H.; DiGeorge, A.M.; and Carpenter, G.G.: " Histidinemia ," in Nyhan, W.L. (ed.): Amino Acid Metabolism and Genetic Variation , New York: The Blakiston Division, McGraw-Hill Book Co., 1967;, pp 145-160.
Ghadimi, H., and Zischka, R.: " Histidinemia ," in Nyhan, W.L. (ed.): Amino Acid Metabolism and Genetic Variation , New York: The Blakiston Division, McGraw-Hill Book Co., 1967;, pp 133-143.
Andrews, B.F.; Crosby, P.F.; and Angel, C.R.:  Histidinemia, a New Metabolic Disorder , Southern Med J 55:1326 ( (Dec) ) 1962;.
Hudson, F.P.; Dickinson, R.A.; and Ireland, J.T.:  Experiences in the Detection and Treatment of Phenylketonuria , Pediatrics 31:47-57 ( (Jan) ) 1963;.
Davies, H.E., and Robinson, M.J.:  A Case of Histidinemia , Arch Dis Child 38:80-82 ( (Feb) ) 1963;.
Snyder, S.H., et al:  Metabolism of 2-C14-Labeled L-Histidine in Histidinemia , J Clin Endocr 23:594-597 ( (June) ) 1963;.
Shaw, K.N.F., et al:  Histidinemia , abstracted, J Pediat 63:720 ( (Oct) ) 1962;.
Gerritsen, F.: "Histidinemia and Mental Retardation," in Øster, J. (ed.): Proceedings of the International Copenhagen Congress on the Scientific Study of Mental Retardation, Copenhagen, Denmark, August 7-14, 1964, Copenhagen: Statens Andssvageforsorg Falkoner, 1964, vol 1, pp 94-95.
Holton, J.B.; Lewis, F.J.W.; and Moore, G.R.:  Biochemical Investigation of Histidinemia , J Clin Path 17:671-675 ( (Nov) ) 1964;.
Clarance, G.A., and Bowman, J.K.:  Further Case of Histidinemia , Brit Med J 5494:1019-1020 ( (April 23) ) 1966;.
Galamon, T., and Szulc-Kuberska, J., cited by Auerbach, V.H.6
Wadman, S.K., et al:  Three New Cases of Histidinemia , Acta Paediat Scand 56:485-492 ( (Sept) ) 1967;.
LaDu, B.N.:  Histidinemia: Current Status , Amer J Dis Child 113:88-92 ( (Jan) ) 1967;.

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