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Abnormal circulating phenylalanine concentration

MedGen UID:
869249
•Concept ID:
C4023672
•
Finding
Synonym: Abnormality of phenylalanine metabolism
 
HPO: HP:0010893

Definition

Any deviation from the normal concentration of phenylalanine in the blood circulation. [from HPO]

Recent clinical studies

Etiology

Phenylalanine Effects on Brain Function in Adult Phenylketonuria.
Pilotto A, Zipser CM, Leks E, Haas D, Gramer G, Freisinger P, Schaeffer E, Liepelt-Scarfone I, Brockmann K, Maetzler W, Schulte C, Deuschle C, Hauser AK, Hoffmann GF, Scheffler K, van Spronsen FJ, Padovani A, Trefz F, Berg D
Neurology 2021 Jan 19;96(3):e399-e411. Epub 2020 Oct 22 doi: 10.1212/WNL.0000000000011088. PMID: 33093221
Higher versus lower protein intake in formula-fed low birth weight infants.
Fenton TR, Premji SS, Al-Wassia H, Sauve RS
Cochrane Database Syst Rev 2014 Apr 21;2014(4):CD003959. doi: 10.1002/14651858.CD003959.pub3. PMID: 24752987Free PMC Article
Higher versus lower protein intake in formula-fed low birth weight infants.
Premji SS, Fenton TR, Sauve RS
Cochrane Database Syst Rev 2006 Jan 25;(1):CD003959. doi: 10.1002/14651858.CD003959.pub2. PMID: 16437468
The influence of nutrition on IGF-1 in tube-fed profoundly retarded adults.
Glick NR, Fischer MH, Adkins WN Jr
J Am Coll Nutr 2001 Feb;20(1):81-6. doi: 10.1080/07315724.2001.10719018. PMID: 11293472
Free amino acid concentrations in normal and abnormal third trimester placental villi.
Morris NH, Burston D, Ramsay B, Sooranna SR
Eur J Clin Invest 1995 Oct;25(10):796-8. doi: 10.1111/j.1365-2362.1995.tb01960.x. PMID: 8557068

Diagnosis

PET studies of net blood-brain clearance of FDOPA to human brain: age-dependent decline of [18F]fluorodopamine storage capacity.
Kumakura Y, Vernaleken I, Gründer G, Bartenstein P, Gjedde A, Cumming P
J Cereb Blood Flow Metab 2005 Jul;25(7):807-19. doi: 10.1038/sj.jcbfm.9600079. PMID: 15729292
Disorders of prolactin and growth hormone secretion.
Ho KY, Evans WS, Thorner MO
Clin Endocrinol Metab 1985 Feb;14(1):1-32. doi: 10.1016/s0300-595x(85)80063-3. PMID: 3926353
DOPA metabolism in neuroblastoma.
Helson L, Johnson GA, Smith R
Med Pediatr Oncol 1980;8(4):317-22. doi: 10.1002/mpo.2950080402. PMID: 6779102

Therapy

Higher versus lower protein intake in formula-fed low birth weight infants.
Fenton TR, Premji SS, Al-Wassia H, Sauve RS
Cochrane Database Syst Rev 2014 Apr 21;2014(4):CD003959. doi: 10.1002/14651858.CD003959.pub3. PMID: 24752987Free PMC Article
Higher versus lower protein intake in formula-fed low birth weight infants.
Premji SS, Fenton TR, Sauve RS
Cochrane Database Syst Rev 2006 Jan 25;(1):CD003959. doi: 10.1002/14651858.CD003959.pub2. PMID: 16437468
The influence of nutrition on IGF-1 in tube-fed profoundly retarded adults.
Glick NR, Fischer MH, Adkins WN Jr
J Am Coll Nutr 2001 Feb;20(1):81-6. doi: 10.1080/07315724.2001.10719018. PMID: 11293472
Disorders of prolactin and growth hormone secretion.
Ho KY, Evans WS, Thorner MO
Clin Endocrinol Metab 1985 Feb;14(1):1-32. doi: 10.1016/s0300-595x(85)80063-3. PMID: 3926353
Prolactin secretion in Parkinson disease.
Eisler T, Thorner MO, MacLeod RM, Kaiser DL, Calne DB
Neurology 1981 Oct;31(10):1356-9. doi: 10.1212/wnl.31.10.1356. PMID: 6810204

Prognosis

In multiple myeloma, clonotypic B lymphocytes are detectable among CD19+ peripheral blood cells expressing CD38, CD56, and monotypic Ig light chain.
Bergsagel PL, Smith AM, Szczepek A, Mant MJ, Belch AR, Pilarski LM
Blood 1995 Jan 15;85(2):436-47. PMID: 7529064
Recombinant human granulocyte colony-stimulating factor repairs the abnormalities of neutrophils in patients with myelodysplastic syndromes and chronic myelogenous leukemia.
Yuo A, Kitagawa S, Okabe T, Urabe A, Komatsu Y, Itoh S, Takaku F
Blood 1987 Aug;70(2):404-11. PMID: 3038212
DOPA metabolism in neuroblastoma.
Helson L, Johnson GA, Smith R
Med Pediatr Oncol 1980;8(4):317-22. doi: 10.1002/mpo.2950080402. PMID: 6779102

Clinical prediction guides

Higher versus lower protein intake in formula-fed low birth weight infants.
Fenton TR, Premji SS, Al-Wassia H, Sauve RS
Cochrane Database Syst Rev 2014 Apr 21;2014(4):CD003959. doi: 10.1002/14651858.CD003959.pub3. PMID: 24752987Free PMC Article
Higher versus lower protein intake in formula-fed low birth weight infants.
Premji SS, Fenton TR, Sauve RS
Cochrane Database Syst Rev 2006 Jan 25;(1):CD003959. doi: 10.1002/14651858.CD003959.pub2. PMID: 16437468
In multiple myeloma, clonotypic B lymphocytes are detectable among CD19+ peripheral blood cells expressing CD38, CD56, and monotypic Ig light chain.
Bergsagel PL, Smith AM, Szczepek A, Mant MJ, Belch AR, Pilarski LM
Blood 1995 Jan 15;85(2):436-47. PMID: 7529064
Recombinant human granulocyte colony-stimulating factor repairs the abnormalities of neutrophils in patients with myelodysplastic syndromes and chronic myelogenous leukemia.
Yuo A, Kitagawa S, Okabe T, Urabe A, Komatsu Y, Itoh S, Takaku F
Blood 1987 Aug;70(2):404-11. PMID: 3038212
DOPA metabolism in neuroblastoma.
Helson L, Johnson GA, Smith R
Med Pediatr Oncol 1980;8(4):317-22. doi: 10.1002/mpo.2950080402. PMID: 6779102

Recent systematic reviews

Higher versus lower protein intake in formula-fed low birth weight infants.
Fenton TR, Premji SS, Al-Wassia H, Sauve RS
Cochrane Database Syst Rev 2014 Apr 21;2014(4):CD003959. doi: 10.1002/14651858.CD003959.pub3. PMID: 24752987Free PMC Article
Higher versus lower protein intake in formula-fed low birth weight infants.
Premji SS, Fenton TR, Sauve RS
Cochrane Database Syst Rev 2006 Jan 25;(1):CD003959. doi: 10.1002/14651858.CD003959.pub2. PMID: 16437468

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