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Abnormal CSF phenylalanine concentration

MedGen UID:
1700837
•Concept ID:
C5139600
•
Finding
Synonym: Abnormal phenylalanine levels in cerebrospinal fluid
 
HPO: HP:0500215

Definition

Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid. [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
Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia.
Assmann B, Köhler M, Hoffmann GF, Heales S, Surtees R
Pediatr Res 2002 Jul;52(1):91-4. doi: 10.1203/00006450-200207000-00017. PMID: 12084853
Amino acid concentration in dementia of the Alzheimer type and multi-infarct dementia.
Mochizuki Y, Oishi M, Hara M, Takasu T
Ann Clin Lab Sci 1996 May-Jun;26(3):275-8. PMID: 8726221
Cerebrospinal fluid amino acid levels in newborn infants with intracranial hemorrhage.
Yurdakök M, Coşkun T, Erdem G, Göktoğan S, Ozalp I, Tekinalp G
Acta Paediatr Jpn 1995 Dec;37(6):694-6. doi: 10.1111/j.1442-200x.1995.tb03406.x. PMID: 8775553
On the brain barrier system function and changes of cerebrospinal fluid concentrations of phenylalanine and tyrosine in human phenylketonuria.
Ratzmann GW, Grimm U, Jährig K, Knapp A
Biomed Biochim Acta 1984;43(2):197-204. PMID: 6732755

Diagnosis

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S5-10. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1009-4. PMID: 19130291
Mitochondrial diseases mimicking neurotransmitter defects.
Garcia-Cazorla A, Duarte S, Serrano M, Nascimento A, Ormazabal A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M, Artuch R
Mitochondrion 2008 Jun;8(3):273-8. Epub 2008 May 21 doi: 10.1016/j.mito.2008.05.001. PMID: 18558519
Cerebrospinal fluid metabolic profiles in multiple sclerosis and degenerative dementias obtained by high resolution proton magnetic resonance spectroscopy.
Nicoli F, Vion-Dury J, Confort-Gouny S, Maillet S, Gastaut JL, Cozzone PJ
C R Acad Sci III 1996 Jul;319(7):623-31. PMID: 9011324
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.
Hyland K, Surtees RA, Rodeck C, Clayton PT
Neurology 1992 Oct;42(10):1980-8. doi: 10.1212/wnl.42.10.1980. PMID: 1357595
On the brain barrier system function and changes of cerebrospinal fluid concentrations of phenylalanine and tyrosine in human phenylketonuria.
Ratzmann GW, Grimm U, Jährig K, Knapp A
Biomed Biochim Acta 1984;43(2):197-204. PMID: 6732755

Therapy

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S5-10. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1009-4. PMID: 19130291
Mitochondrial diseases mimicking neurotransmitter defects.
Garcia-Cazorla A, Duarte S, Serrano M, Nascimento A, Ormazabal A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M, Artuch R
Mitochondrion 2008 Jun;8(3):273-8. Epub 2008 May 21 doi: 10.1016/j.mito.2008.05.001. PMID: 18558519
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.
Hyland K, Surtees RA, Rodeck C, Clayton PT
Neurology 1992 Oct;42(10):1980-8. doi: 10.1212/wnl.42.10.1980. PMID: 1357595
Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria.
Lou HC, Lykkelund C, Gerdes AM, Udesen H, Bruhn P
Acta Paediatr Scand 1987 Jul;76(4):560-5. doi: 10.1111/j.1651-2227.1987.tb10521.x. PMID: 2442957
The concentration of homovanillic and 5-hydroxyindoleacetic acids in ventricular and lumbar CSF. Studies in patients with extrapyramidal disorders, epilepsy, and other diseases.
Papeschi R, Molina-Negro P, Sourkes TL, Erba G
Neurology 1972 Nov;22(11):1151-9. doi: 10.1212/wnl.22.11.1151. PMID: 4263829

Prognosis

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S5-10. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1009-4. PMID: 19130291
Mitochondrial diseases mimicking neurotransmitter defects.
Garcia-Cazorla A, Duarte S, Serrano M, Nascimento A, Ormazabal A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M, Artuch R
Mitochondrion 2008 Jun;8(3):273-8. Epub 2008 May 21 doi: 10.1016/j.mito.2008.05.001. PMID: 18558519
Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia.
Assmann B, Köhler M, Hoffmann GF, Heales S, Surtees R
Pediatr Res 2002 Jul;52(1):91-4. doi: 10.1203/00006450-200207000-00017. PMID: 12084853
Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis.
Hyland K, Surtees RA, Rodeck C, Clayton PT
Neurology 1992 Oct;42(10):1980-8. doi: 10.1212/wnl.42.10.1980. PMID: 1357595
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

Clinical prediction guides

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
Kusmierska K, Jansen EE, Jakobs C, Szymanska K, Malunowicz E, Meilei D, Thony B, Blau N, Tryfon J, Rokicki D, Pronicka E, Sykut-Cegielska J
J Inherit Metab Dis 2009 Dec;32 Suppl 1:S5-10. Epub 2009 Jan 7 doi: 10.1007/s10545-008-1009-4. PMID: 19130291
Mitochondrial diseases mimicking neurotransmitter defects.
Garcia-Cazorla A, Duarte S, Serrano M, Nascimento A, Ormazabal A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M, Artuch R
Mitochondrion 2008 Jun;8(3):273-8. Epub 2008 May 21 doi: 10.1016/j.mito.2008.05.001. PMID: 18558519
Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia.
Assmann B, Köhler M, Hoffmann GF, Heales S, Surtees R
Pediatr Res 2002 Jul;52(1):91-4. doi: 10.1203/00006450-200207000-00017. PMID: 12084853
Amino acid concentration in dementia of the Alzheimer type and multi-infarct dementia.
Mochizuki Y, Oishi M, Hara M, Takasu T
Ann Clin Lab Sci 1996 May-Jun;26(3):275-8. PMID: 8726221
High resolution proton nuclear magnetic resonance studies of human cerebrospinal fluid.
Bell JD, Brown JC, Sadler PJ, Macleod AF, Sönksen PH, Hughes RD, Williams R
Clin Sci (Lond) 1987 May;72(5):563-70. doi: 10.1042/cs0720563. PMID: 3034477

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