When combined, these factors will result in a variable phenotype for iminoglycinuria depending on which mutations are present. [en.wikipedia.org]

ORPHA:42062 Synonym(s): - Prevalence: 1-9 / 100 000 Inheritance: Autosomal recessive Age of onset: All ages ICD-10: E72.0 OMIM: 242600 UMLS: C0268654 MeSH: C536285 GARD: 8424 MedDRA: - The documents contained in this web site are presented for information [orpha.net]

Presented in part at the annual meeting of the American Society for Clinical Investigation, May, 1967. We are indebted to Dr. Gary Wanerka, assistant resident, Yale–New Haven Hospital for referring the proband to us, and to Mrs. Ann Altman and Mrs. [doi.org]

Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty. [books.google.com]

This is evident, as inherited iminoglycinuria can be clinically present with no intestinal involvement. [liquisearch.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances. [books.google.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment - Iminoglycinuria Not supplied. Resources - Iminoglycinuria Not supplied. [checkorphan.org]

Recenti Prog Med910675-6802000Hart PEet al.Antioxidant treatment of patients with Friedreich ataxia: four-year follow-upArch Neurol624621-6262005Delatycki MBWilliamson R, Forrest SMFriedreich ataxia: an overviewJ Med Genet3711,82000Sturm Bet al.Friedreichs [metagene.de]

Prognosis - Iminoglycinuria Not supplied. Treatment - Iminoglycinuria Not supplied. Resources - Iminoglycinuria Not supplied. [checkorphan.org]

Prognosis Malnutrition and a low-protein diet increase morbidity. Attacks become less frequent with increasing age. [patient.info]

Epidemiology The prevalence is 1 in 15,000. Systematic References: 1. Bröer S et al. (2008) Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. [ ] 2. [moldiag.com]

[…] to be involved in the pathophysiology of chronic tension-type headache ... in pain inhibitory systems may also play a role in the pathophysiology of chronic tension-type headache ... [liquisearch.com]

[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.com]

Iminoglycinuria: Pathophysiology Glycine, proline and hydroxyproline share common renal tubular mechanisms of reabsorption, a function specific to the proximal tubule. [maria-online.com]

[…] signs and symptoms mentioned in various sources for Iminoglycinuria includes the 4 symptoms listed below: * Excessive urinary proline * Excessive urinary hydroxylproline * Excessive urinary glycine * Asymptomatic Causes - Iminoglycinuria Asymptomatic Prevention [checkorphan.org]

Furthermore, the hydrophobicity of the target protein microenvironment can either prevent or allow biotinylation based on the solubility of the reagent. [thermofisher.com]

Long-term management includes dietary protein restriction, oral supplementation with citrulline and nitrogen scavenger drugs, low-dose lysine and carnitine: Symptoms can be largely prevented by a low-protein diet. [patient.info]