This is in contrast to the fact that when only one PAT2 allele is defective, hyperglycinuria will be present instead of iminoglycinuria. [en.wikipedia.org]

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

• Epilepsy

  Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.4 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in [panelapp.genomicsengland.co.uk]

  J Pediatr Epilepsy. 2: 255-258‚ 2013 [ped.med.tohoku.ac.jp]

  Turk J Pediatr. 1993;35(2):121-5. [ Show abstract ] Aminoaciduria Developmental Disabilities Homo sapiens Infant Infant, Newborn Male Renal Aminoacidurias 3 (4.0%) 1994998 [A case of type I hyperprolinemia associated with photogenic epilepsy]. [pubcasefinder.dbcls.jp]

  1993 29 Iminoglycinuria: a benign type of inherited aminoaciduria. 62 Coskun T...Tokatli A 7504361 1993 30 [Inherited amino acid transport disorders]. 62 Igarashi Y...Tada K 1404888 1992 31 [A case of type I hyperprolinemia associated with photogenic epilepsy [malacards.org]

  […] the endogenous carrier in Caco-2 cells have identified that PAT1 can transport a broad spectrum of substrates including imino and amino acids, the conditionally essential amino acid taurine, the osmolyte betaine, drugs used to treat schizophrenia and epilepsy [doi.org]

• Hyperammonemia

  Treatment, and Follow-Up of Inherited Metabolic Diseases 2022 Inborn errors associated with the mitochondrial SLC25 family with a liver phenotype such as the ones affecting SLC15A15 (ornithine–citrulline carrier 2), homocitrullinuria, hyperornithinemia, and hyperammonemia [semanticscholar.org]

  Wolfe, Studies on the metabolic defect in patients in hyperammonemia, hyperornithinemia, and homocitrullinuria. Clin. Res. 24: 668A (1976). Google Scholar 13. Hayasaka, S., T. Shiono, K. Mizuno, T. Saito & K. Tada. [doi.org]

  (HHH) syndrome，高オルニチン血症‐高アンモニア血症‐ホモシトルリン尿症（HHH）症候群 99% 9. citrin deficiency，シトリン欠損症，肝内胆汁うっ滞を伴う新生児肝炎（NICCD），成人発症II型シトルリン血症（CTLN2） 90～99% 10. transient neonatal hyperammonemia，新生児一過性高アンモニア血症 70～90% 11. hyperammonemia due to other origin，その他の高アンモニア血症 70 [jc-metabolomics.com]

  Hawkinsinuria Tyrosine → Melanin Albinism : Ocular albinism ( 1 ) Oculocutaneous albinism ( Hermansky–Pudlak syndrome ) Waardenburg syndrome Tyrosine → Norepinephrine Dopamine beta hydroxylase deficiency reverse: Brunner syndrome G→ oxaloacetate Urea cycle / Hyperammonemia [maria-online.com]

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]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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]

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]

Some babies may also need additional treatments if there are complications. [ Read More ] [icdlist.com]

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

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol. 2015 Oct;78(4):606-18. doi: 10.1002/ana.24485. Epub 2015 Aug 10. [rarediseases.org]

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

Cited by Modeling the enigma of complex disease etiology. Schriml LM, Lichenstein R, Bisordi K, Bearer C, Baron JA, Greene C. Schriml LM, et al. J Transl Med. 2023 Feb 25;21(1):148. doi: 10.1186/s12967-023-03987-x. J Transl Med. 2023. [pubmed.ncbi.nlm.nih.gov]

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]

Pathophysiology Benign condition in which glycine and the imino acids proline and hydroxyproline have a decreased renal tubular reabsorption. [accessanesthesiology.mhmedical.com]

Pathophysiology Glycine, proline and hydroxyproline share common renal tubular mechanisms of reabsorption, a function specific to the proximal tubule. [findzebra.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]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

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]

[…] individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing [globalgenes.org]