Homocarnosinosis

01/01/2019 - "We review carnosine and carnosinemia's discoveries and the extensive research on the role and benefits of carnosine in the periphery. "
01/01/2018 - "Thus, carnosinemia due to CN1 deficiency may be a non-disease; in contrast, carnosine may potentially protect against long-term sequelae of reactive metabolites accumulating, e.g. "
03/01/2014 - "Acute carnosine supplementation resulted only in three subjects in carnosinemia. "
01/01/2014 - "Serum carnosinase deficiency is an inherited disorder that leads to an accumulation of carnosine in the brain tissue, cerebrospinal fluid, skeletal muscle, and other tissues of affected patients. "
06/01/1986 - "In order to study whether this elevated level of Hca and increased excretion of carnosine (Car) could be reduced towards normal, a dietary regiment with restriction of histidine (His) was maintained for nearly 2 1/2 years for two of the patients, 33 and 39 years old, with homocarnosinosis associated with neurological symptoms. "

06/01/1986 - "Homocarnosinosis: influence of dietary restriction of histidine."
06/01/1986 - "In order to study whether this elevated level of Hca and increased excretion of carnosine (Car) could be reduced towards normal, a dietary regiment with restriction of histidine (His) was maintained for nearly 2 1/2 years for two of the patients, 33 and 39 years old, with homocarnosinosis associated with neurological symptoms. "

02/01/1985 - "Carnosinase and homocarnosinosis."
01/01/2018 - "Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency."
02/01/1997 - "This represents the first report of a chromosomal abnormality in association with serum carnosinase deficiency and should aid in further localization of the gene encoding serum carnosinase."
01/01/2019 - "Carnosinemia, a rare metabolic disorder with increased levels of carnosine in urine and low levels or absence of carnosinase in the blood, is associated with severe neurological symptoms in humans. "
01/01/2018 - "Loss of CN1 function (also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency) has been reported in a small number of patients with highly elevated blood carnosine concentrations, denoted carnosinaemia; it is unclear whether the variety of clinical symptoms in these individuals is causally related to carnosinase deficiency. "

01/01/1990 - "In adults four cases in one family had serum carnosinase deficiency, carnosinuria, and in addition elevated homocarnosine in CSF and in the brain. "
08/15/1983 - "Patients afflicted with homocarnosinosis have elevated concentrations of homocarnosine in brain and CSF. "
08/15/1983 - "Thus it appears that the elevated concentrations of homocarnosine in the CSF of homocarnosinosis patients are attributable to serum carnosinase deficiency."
08/15/1983 - "Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine."
06/01/1979 - "Homocarnosinosis: increased content of homocarnosine and deficiency of homocarnosinase in brain."

04/01/2004 - "The known clinical disorders of GABA metabolism are pyridoxine dependent epilepsy, GABA-transaminase deficiency, SSADH deficiency, and homocarnosinosis. "
01/18/2006 - "Our method is applicable to the analysis of CSF derived from patients with heritable defects in the GABA pathway, patients with homocarnosinosis or serum carnosinase deficiency, and should be applicable to other model systems in order to further explore the biological role and significance of homocarnosine in mammalian systems."
01/01/1993 - "The inherited disorders of GABA metabolism include: (1) pyridoxine-dependent seizures (?glutamic acid decarboxylase deficiency) (> 50 patients); (2) GABA-transaminase deficiency (2 patients/1 family); (3) succinic semialdehyde dehydrogenase deficiency (32 patients/21 families); and (4) homocarnosinosis associated with serum carnosinase deficiency (3 patients/1 family). "

09/01/2006 - "GABA-transaminase deficiency and homocarnosinosis appear to be very rare, but require cerebrospinal fluid for detection, thus allowing for the possibility that these entities, as in the other inherited neurotransmitter disorders, are under-recognized."
04/01/2004 - "GABA-transaminase deficiency and homocarnosinosis appear to be very rare but require CSF for detection, thus allowing for the possibility that these entities, as in the other pediatric neurotransmitter disorders, are underrecognized. "

02/01/1997 - "The patient's brother exhibited moderate hypercarnosinuria and intermediate enzyme activity, consistent with the carrier state for carnosinase deficiency. "
08/15/1983 - "Normal CSF contained serum carnosinase, whereas the CSF of a homocarnosinosis patient was lacking this enzyme. "

06/01/1986 - "Homocarnosinosis, an inherited disorder, is characterized by an elevated level of the dipeptide homocarnosine (Hca) in the CSF and the brain and, in addition, by carnosinuria and serum carnosinase deficiency. "
08/01/1975 - "Tolerance curves for carnosine and its constitutent amino acids showed malabsorption of the dipeptide in a patient with carnosinase deficiency. "

04/01/1980 - "Amino acid analysis revealed persistent carnosinuria but no detectable carnosinemia. "
08/01/1975 - "Tolerance curves for carnosine and its constitutent amino acids showed malabsorption of the dipeptide in a patient with carnosinase deficiency. "

09/01/2006 - "The known genetic disorders are GABA-transaminase deficiency, succinic semialdehyde dehydrogenase (SSADH) deficiency and homocarnosinosis. "

06/01/1986 - "Homocarnosinosis: influence of dietary restriction of histidine."