Skin histidase activity and urine formiminoglutamic acid (FIGLU) in patients with histidinemia found by screening newborn infants. 1982

I Matsuda, and K Matsuo, and F Endo, and I Uehara, and N Nagata, and Y Jinno, and S Chikazawa, and T Miyakita, and H Miura

Skin histidase activities and urine formiminoglutamic acid (FIGLU) levels were measured in 20 patients with histidinemia, identified by Guthrie's screening method, and their family members as well as control subjects. There was a significant positive correlation between skin histidase activities and the amounts of urine FIGLU. Although the difference of skin histidase activity and the amount of urinary FIGLU was significant between any two of the three groups (i.e. controls, parents and patients; p less than 0.005), these levels ranged widely and a considerable number of the cases overlapped among groups. When a discriminant function was computed to obtain the minimum probability of misclassification between the groups using the above two parameters, a better segregation was observed. However, even though the number of misclassifications decreased, the overlapping cases were still present, especially between the parent and patient groups. It is concluded that either skin histidase activity, urine FIGLU, or both, can be used as genetic markers of the disease to a large but still limited extent.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D005260 Female Females
D005565 Formiminoglutamic Acid Measurement of this acid in the urine after oral administration of histidine provides the basis for the diagnostic test of folic acid deficiency and of megaloblastic anemia of pregnancy. FIGLU,Acid, Formiminoglutamic
D005977 Glutarates Derivatives of glutaric acid (the structural formula (COO-)2C3H6), including its salts and esters. Glutarate
D006638 Histidine Ammonia-Lyase An enzyme that catalyzes the first step of histidine catabolism, forming UROCANIC ACID and AMMONIA from HISTIDINE. Deficiency of this enzyme is associated with elevated levels of serum histidine and is called histidinemia (AMINO ACID METABOLISM, INBORN ERRORS). Histidase,Histidinase,Histidine Deaminase,Histidine alpha-Deaminase,Ammonia-Lyase, Histidine,Deaminase, Histidine,Histidine Ammonia Lyase,Histidine alpha Deaminase,alpha-Deaminase, Histidine
D006639 Histidine An essential amino acid that is required for the production of HISTAMINE. Histidine, L-isomer,L-Histidine,Histidine, L isomer,L-isomer Histidine
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000592 Amino Acid Metabolism, Inborn Errors Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy
D000642 Ammonia-Lyases Enzymes that catalyze the formation of a carbon-carbon double bond by the elimination of AMMONIA. EC 4.3.1. Ammonia Lyase,Ammonia-Lyase,Ammonia Lyases,Lyase, Ammonia

Related Publications

I Matsuda, and K Matsuo, and F Endo, and I Uehara, and N Nagata, and Y Jinno, and S Chikazawa, and T Miyakita, and H Miura
July 1961, Archives of internal medicine,
I Matsuda, and K Matsuo, and F Endo, and I Uehara, and N Nagata, and Y Jinno, and S Chikazawa, and T Miyakita, and H Miura
August 1980, The Journal of pediatrics,
I Matsuda, and K Matsuo, and F Endo, and I Uehara, and N Nagata, and Y Jinno, and S Chikazawa, and T Miyakita, and H Miura
December 1985, Jinrui idengaku zasshi. The Japanese journal of human genetics,
I Matsuda, and K Matsuo, and F Endo, and I Uehara, and N Nagata, and Y Jinno, and S Chikazawa, and T Miyakita, and H Miura
November 1979, Pediatriia,
I Matsuda, and K Matsuo, and F Endo, and I Uehara, and N Nagata, and Y Jinno, and S Chikazawa, and T Miyakita, and H Miura
July 1971, Monatsschrift fur Kinderheilkunde,
I Matsuda, and K Matsuo, and F Endo, and I Uehara, and N Nagata, and Y Jinno, and S Chikazawa, and T Miyakita, and H Miura
July 1970, Pediatrics,
I Matsuda, and K Matsuo, and F Endo, and I Uehara, and N Nagata, and Y Jinno, and S Chikazawa, and T Miyakita, and H Miura
May 1973, The Tohoku journal of experimental medicine,
I Matsuda, and K Matsuo, and F Endo, and I Uehara, and N Nagata, and Y Jinno, and S Chikazawa, and T Miyakita, and H Miura
January 2019, Journal of inherited metabolic disease,
I Matsuda, and K Matsuo, and F Endo, and I Uehara, and N Nagata, and Y Jinno, and S Chikazawa, and T Miyakita, and H Miura
January 1964, Revue francaise d'etudes cliniques et biologiques,
I Matsuda, and K Matsuo, and F Endo, and I Uehara, and N Nagata, and Y Jinno, and S Chikazawa, and T Miyakita, and H Miura
July 1964, Journal of clinical pathology,
Copied contents to your clipboard!