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Increased serine family amino acid in urine

MedGen UID:
1727463
•Concept ID:
C5421610
•
Finding
HPO: HP:0033099

Definition

An increased level of a serine family amino acid in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased serine family amino acid in urine

Recent clinical studies

Etiology

DRIVERS OF HYPERFERREMIA IN CHILDREN LIVING ON RADIOLOGICALLY CONTAMINATED TERRITORIES AFTER THE CHNPP ACCIDENT IN UKRAINE.
Bazyka DA, Bruslova KM, Liashenko LO, Pushkareva TI, Tsvyetkova NM, Galkina SG, Kondrashova VG, Yaroshenko ZS, Gonchar LO, Yatsemyrskyi SM, Trychlіb IV, Kavardakova NV, Boyarskyi VG, Chernysh TO, Lytvynets OM
Probl Radiac Med Radiobiol 2023 Dec;28:239-253. doi: 10.33145/2304-8336-2023-28-239-253. PMID: 38155126
D(+)-glyceric aciduria: etiology and clinical consequences.
Bonham JR, Stephenson TJ, Carpenter KH, Rattenbury JM, Cromby CH, Pollitt RJ, Hull D
Pediatr Res 1990 Jul;28(1):38-41. doi: 10.1203/00006450-199007000-00009. PMID: 2165585
Effect of infused L-threo-3,4-dihydroxyphenylserine on adrenergic activity in patients with familial amyloid polyneuropathy.
Suzuki T, Higa S, Tsuge I, Sakoda S, Hayashi A, Yamamura Y, Takaba Y, Nakajima A
Eur J Clin Pharmacol 1980 Jun;17(6):429-35. doi: 10.1007/BF00570160. PMID: 6772451

Diagnosis

Bikunin (urinary trypsin inhibitor): structure, biological relevance, and measurement.
Pugia MJ, Valdes R Jr, Jortani SA
Adv Clin Chem 2007;44:223-45. doi: 10.1016/s0065-2423(07)44007-0. PMID: 17682344

Therapy

D(+)-glyceric aciduria: etiology and clinical consequences.
Bonham JR, Stephenson TJ, Carpenter KH, Rattenbury JM, Cromby CH, Pollitt RJ, Hull D
Pediatr Res 1990 Jul;28(1):38-41. doi: 10.1203/00006450-199007000-00009. PMID: 2165585
Mass spectrometric measurements of norepinephrine synthesis in man from infusion of stable isotope-labelled L-threo-3,4-dihydroxyphenylserine.
Suzuki T, Sakoda S, Ueji M, Kishimoto S
Life Sci 1985 Feb 4;36(5):435-42. doi: 10.1016/0024-3205(85)90255-3. PMID: 3918223
Effect of infused L-threo-3,4-dihydroxyphenylserine on adrenergic activity in patients with familial amyloid polyneuropathy.
Suzuki T, Higa S, Tsuge I, Sakoda S, Hayashi A, Yamamura Y, Takaba Y, Nakajima A
Eur J Clin Pharmacol 1980 Jun;17(6):429-35. doi: 10.1007/BF00570160. PMID: 6772451

Prognosis

Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
Ali EZ, Yunus ZM, Desa NM, Hock NL
J Pediatr Endocrinol Metab 2013;26(9-10):975-80. doi: 10.1515/jpem-2012-0424. PMID: 23729548
Inter-alpha-trypsin inhibitor and its related proteins in Syrian hamster urine and plasma.
Yamamoto T, Yamamoto K, Sinohara H
J Biochem 1996 Jul;120(1):145-52. doi: 10.1093/oxfordjournals.jbchem.a021377. PMID: 8864857

Clinical prediction guides

Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
Ali EZ, Yunus ZM, Desa NM, Hock NL
J Pediatr Endocrinol Metab 2013;26(9-10):975-80. doi: 10.1515/jpem-2012-0424. PMID: 23729548
Renal effects of serine-7 analog of lymphoguanylin in ex vivo rat kidney.
Fonteles MC, Carrithers SL, Monteiro HS, Carvalho AF, Coelho GR, Greenberg RN, Forte LR
Am J Physiol Renal Physiol 2001 Feb;280(2):F207-13. doi: 10.1152/ajprenal.2001.280.2.F207. PMID: 11208595
Effect of infused L-threo-3,4-dihydroxyphenylserine on adrenergic activity in patients with familial amyloid polyneuropathy.
Suzuki T, Higa S, Tsuge I, Sakoda S, Hayashi A, Yamamura Y, Takaba Y, Nakajima A
Eur J Clin Pharmacol 1980 Jun;17(6):429-35. doi: 10.1007/BF00570160. PMID: 6772451

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