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Scientific Reports Oct 2023L-Histidine is an essential amino acid with unique biochemical and physiological properties. Histidinemia is a disease condition caused by the elevated level of...
L-Histidine is an essential amino acid with unique biochemical and physiological properties. Histidinemia is a disease condition caused by the elevated level of L-histidine in our blood. Mutations in the histidase, an enzyme for the breakdown of histidine, is the cause of the rise in histidine concentration. To our knowledge, no research has been done on why a high concentration of histidine causes histidinemia. In this study, we provide a potential explanation why the elevated levels of histidine in the human body causes histidinemia. In this study we have found that L-histidine self-assembled in water to form nano sheet structures at physiological pH and temperature, using 1D H NMR spectroscopy, diffusion ordered spectroscopy (DOSY) and scanning electron microscope (SEM) techniques. The kinetics of self-assembly has been studied using real time NMR spectroscopy. We observed that both the aromatic ring and aliphatic part are equally contributing to the self-assembly of L-histidine. The symptoms of histidinemia, neurological deficits and speech delays, are similar to that of the neurodegenerative diseases caused by the self-assembly of peptides and proteins. We speculate that the self-assembly of L-histidine might be the cause of histidinemia.
Topics: Humans; Histidine; Histidine Ammonia-Lyase; Amino Acid Metabolism, Inborn Errors; Proteins
PubMed: 37838762
DOI: 10.1038/s41598-023-44749-5 -
British Medical Journal Aug 1972
Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Histidine; Humans; Intellectual Disability
PubMed: 5069216
DOI: No ID Found -
The Biochemical Journal Feb 1969
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Histidine; Humans; Intellectual Disability; Lyases
PubMed: 5767058
DOI: 10.1042/bj1110004p -
Archives of Disease in Childhood Feb 1971
Topics: Amino Acid Metabolism, Inborn Errors; Child Development; Child, Preschool; Female; Histidine; Humans; Male; Pregnancy; Pregnancy Complications
PubMed: 5555485
DOI: 10.1136/adc.46.245.119 -
RSC Advances Jul 2020Histidinemia is a congenital metabolic disorder where the histidine (His) metabolism is blocked, resulting in increased concentrations of His in blood and urine. The...
Histidinemia is a congenital metabolic disorder where the histidine (His) metabolism is blocked, resulting in increased concentrations of His in blood and urine. The disease causes an abnormal development of the patient's nervous system, which leads to many serious illnesses. Therefore, it is very important to diagnose early. In this study, we developed a novel fluorescent nanosensor NaGdF:Yb, Er@SiO-spiropyran (UCNP@SiO-SP). The nanosensor displayed a "turn-off" fluorescence response towards His. When His was mixed with UCNP@SiO-SP, His could specifically bind to SP, which could cause the isomerization of SP. The structure of SP was changed from spiroform into merocyanine form. The luminescence of the sensor was overlapped with the absorption of the merocyanine form. As a result, His will lead to fluorescence quenching of the sensor based on inner filter effects (IFE), which can be used to detect His. Importantly, as the first report of a UCNP@SiO-SP nanosensor for detecting His, this method exhibits good selectivity and anti-interference capability. The detection limit is 4.4 μM. In addition, the amount of His in urine was also measured, suggesting the applicability of this sensor for histidinemia diagnosis.
PubMed: 35515791
DOI: 10.1039/d0ra03711g -
The Journal of Biological Chemistry May 1964
Topics: Amino Acid Metabolism, Inborn Errors; Blood; Child; Chromatography; Histidine; Histidine Ammonia-Lyase; Humans; Imidazoles; Intellectual Disability; Lyases; Phenylhydrazines; Pyruvates; Ultraviolet Rays; Urine
PubMed: 14189893
DOI: No ID Found -
Archives of Disease in Childhood Oct 1975
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Histidine; Humans
PubMed: 1236575
DOI: 10.1136/adc.50.10.831 -
Archives of Disease in Childhood Jul 1974
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Histidine; Humans; Intellectual Disability; Intelligence Tests; Male; Phenylketonurias; Pregnancy; Psychological Tests
PubMed: 4853106
DOI: 10.1136/adc.49.7.581 -
Archives of Disease in Childhood Apr 1996Histidinaemia is a relatively common inherited metabolic disorder with an incidence similar to phenylketonuria. This paper reports the long term outcome of patients...
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 detected following diagnosis in a sibling. Of the 113, nine were lost to follow up. Infants diagnosed before 1981 (n = 47) were placed on a low histidine diet (225 mg/kg/d) for an average period of 21 months (SD 4.5). All patients were reviewed regularly, Griffiths developmental quotients (DQ) were assessed at 2 and 4 years, and WISC-R intelligence quotients (IQ) at 8, 12, and 18 years. IQ data were converted to standard deviation scores (IQ SDS) to account for increasing IQ norms with time. Neither DQ nor IQ correlated with plasma histidine at diagnosis or with the mean plasma histidine throughout life. Growth was normal in all patients. There was no apparent benefit from a low histidine diet in early childhood. In contrast to other studies, there was no excess of clinical symptoms. On the basis of these findings, histidinaemia is a benign metabolic disorder that does not require treatment.
Topics: Amino Acid Metabolism, Inborn Errors; Body Height; Child Development; Female; Follow-Up Studies; Growth; Histidine; Humans; Infant, Newborn; Intelligence; Male; Prospective Studies; Weight Gain
PubMed: 8669938
DOI: 10.1136/adc.74.4.343 -
British Medical Journal Apr 1966
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Blood; Chromatography, Paper; Female; Histidine; Humans; In Vitro Techniques; Intellectual Disability; Lyases; Skin; Urine
PubMed: 5909846
DOI: 10.1136/bmj.1.5494.1019