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Increased circulating N-acetylaspartic acid concentration

MedGen UID:
1701810
Concept ID:
C5139235
Finding
Synonyms: Increased circulating N-acetyl aspartate level; Increased circulating N-acetyl aspartic acid level; Increased circulating N-acetyl-L-aspartic acid level; Increased circulating N-acetylaspartate level; Increased circulating NAA level
 
HPO: HP:0032273

Definition

Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal. [from HPO]

Term Hierarchy

Conditions with this feature

Spongy degeneration of central nervous system
MedGen UID:
61565
Concept ID:
C0206307
Disease or Syndrome
Most individuals with Canavan disease have the neonatal/infantile form. Although such infants appear normal early in life, by age three to five months, hypotonia, head lag, macrocephaly, and developmental delays become apparent. With age, children with neonatal/infantile-onset Canavan disease often become irritable and experience sleep disturbance, seizures, and feeding difficulties. Swallowing deteriorates, and some children require nasogastric feeding or permanent feeding gastrostomies. Joint stiffness increases, so that these children resemble individuals with cerebral palsy. Children with mild/juvenile Canavan disease may have normal or mildly delayed speech or motor development early in life without regression. In spite of developmental delay most of these children can be educated in typical classroom settings and may benefit from speech therapy or tutoring as needed. Most children with mild forms of Canavan disease have normal head size, although macrocephaly, retinitis pigmentosa, and seizures have been reported in a few individuals.

Professional guidelines

PubMed

Daniele G, Campi B, Saba A, Codini S, Ciccarone A, Giusti L, Del Prato S, Esterline RL, Ferrannini E
Front Endocrinol (Lausanne) 2020;11:216. Epub 2020 Apr 17 doi: 10.3389/fendo.2020.00216. PMID: 32362872Free PMC Article

Recent clinical studies

Etiology

Lepping RJ, Montgomery RN, Sharma P, Mahnken JD, Vidoni ED, Choi IY, Sarnak MJ, Brooks WM, Burns JM, Gupta A
J Am Soc Nephrol 2021 Jan;32(1):177-187. Epub 2020 Oct 16 doi: 10.1681/ASN.2020050584. PMID: 33067382Free PMC Article
Daniele G, Campi B, Saba A, Codini S, Ciccarone A, Giusti L, Del Prato S, Esterline RL, Ferrannini E
Front Endocrinol (Lausanne) 2020;11:216. Epub 2020 Apr 17 doi: 10.3389/fendo.2020.00216. PMID: 32362872Free PMC Article
McGuire SA, Ryan MC, Sherman PM, Sladky JH, Rowland LM, Wijtenburg SA, Hong LE, Kochunov PV
Hum Brain Mapp 2019 Aug 1;40(11):3165-3173. Epub 2019 Mar 29 doi: 10.1002/hbm.24587. PMID: 30927318Free PMC Article
Karczewska-Kupczewska M, Nikolajuk A, Filarski R, Majewski R, Tarasów E
J Clin Endocrinol Metab 2018 Jul 1;103(7):2563-2570. doi: 10.1210/jc.2018-00107. PMID: 29860500
Mitra S, Bale G, Meek J, Uria-Avellanal C, Robertson NJ, Tachtsidis I
Adv Exp Med Biol 2016;923:245-251. doi: 10.1007/978-3-319-38810-6_33. PMID: 27526150Free PMC Article

Diagnosis

Sarchioto M, Howe F, Dumitriu IE, Morgante F, Stern J, Edwards MJ, Martino D
Eur J Neurol 2021 Jun;28(6):1910-1921. Epub 2021 Apr 16 doi: 10.1111/ene.14837. PMID: 33768607
Karczewska-Kupczewska M, Nikolajuk A, Filarski R, Majewski R, Tarasów E
J Clin Endocrinol Metab 2018 Jul 1;103(7):2563-2570. doi: 10.1210/jc.2018-00107. PMID: 29860500
Mitra S, Bale G, Meek J, Uria-Avellanal C, Robertson NJ, Tachtsidis I
Adv Exp Med Biol 2016;923:245-251. doi: 10.1007/978-3-319-38810-6_33. PMID: 27526150Free PMC Article
Sheikh AS, Sheikh SA, Mohamed MA
J Pak Med Assoc 2014 Oct;64(10):1179-85. PMID: 25823161
Blasel S, Pfeilschifter W, Jansen V, Mueller K, Zanella F, Hattingen E
J Neurol 2011 Jan;258(1):113-22. Epub 2010 Aug 28 doi: 10.1007/s00415-010-5703-4. PMID: 20803026

Therapy

Lepping RJ, Montgomery RN, Sharma P, Mahnken JD, Vidoni ED, Choi IY, Sarnak MJ, Brooks WM, Burns JM, Gupta A
J Am Soc Nephrol 2021 Jan;32(1):177-187. Epub 2020 Oct 16 doi: 10.1681/ASN.2020050584. PMID: 33067382Free PMC Article
Daniele G, Campi B, Saba A, Codini S, Ciccarone A, Giusti L, Del Prato S, Esterline RL, Ferrannini E
Front Endocrinol (Lausanne) 2020;11:216. Epub 2020 Apr 17 doi: 10.3389/fendo.2020.00216. PMID: 32362872Free PMC Article
Vestergaard MB, Jensen ML, Arngrim N, Lindberg U, Larsson HB
J Cereb Blood Flow Metab 2020 Feb;40(2):341-353. Epub 2018 Dec 12 doi: 10.1177/0271678X18818291. PMID: 30540217Free PMC Article
Karczewska-Kupczewska M, Nikolajuk A, Filarski R, Majewski R, Tarasów E
J Clin Endocrinol Metab 2018 Jul 1;103(7):2563-2570. doi: 10.1210/jc.2018-00107. PMID: 29860500
de Win MM, Reneman L, Jager G, Vlieger EJ, Olabarriaga SD, Lavini C, Bisschops I, Majoie CB, Booij J, den Heeten GJ, van den Brink W
Neuropsychopharmacology 2007 Feb;32(2):458-70. Epub 2006 Nov 1 doi: 10.1038/sj.npp.1301225. PMID: 17077812

Prognosis

Daniele G, Campi B, Saba A, Codini S, Ciccarone A, Giusti L, Del Prato S, Esterline RL, Ferrannini E
Front Endocrinol (Lausanne) 2020;11:216. Epub 2020 Apr 17 doi: 10.3389/fendo.2020.00216. PMID: 32362872Free PMC Article
Mitra S, Bale G, Meek J, Uria-Avellanal C, Robertson NJ, Tachtsidis I
Adv Exp Med Biol 2016;923:245-251. doi: 10.1007/978-3-319-38810-6_33. PMID: 27526150Free PMC Article
Sheikh AS, Sheikh SA, Mohamed MA
J Pak Med Assoc 2014 Oct;64(10):1179-85. PMID: 25823161
Tsujikawa T, Yoneda M, Shimizu Y, Uematsu H, Toyooka M, Ikawa M, Kudo T, Okazawa H, Kuriyama M, Kimura H
Brain Dev 2010 Feb;32(2):143-9. Epub 2009 Jan 26 doi: 10.1016/j.braindev.2008.12.003. PMID: 19171446

Clinical prediction guides

Sarchioto M, Howe F, Dumitriu IE, Morgante F, Stern J, Edwards MJ, Martino D
Eur J Neurol 2021 Jun;28(6):1910-1921. Epub 2021 Apr 16 doi: 10.1111/ene.14837. PMID: 33768607
Vestergaard MB, Jensen ML, Arngrim N, Lindberg U, Larsson HB
J Cereb Blood Flow Metab 2020 Feb;40(2):341-353. Epub 2018 Dec 12 doi: 10.1177/0271678X18818291. PMID: 30540217Free PMC Article
McGuire SA, Ryan MC, Sherman PM, Sladky JH, Rowland LM, Wijtenburg SA, Hong LE, Kochunov PV
Hum Brain Mapp 2019 Aug 1;40(11):3165-3173. Epub 2019 Mar 29 doi: 10.1002/hbm.24587. PMID: 30927318Free PMC Article
Karczewska-Kupczewska M, Nikolajuk A, Filarski R, Majewski R, Tarasów E
J Clin Endocrinol Metab 2018 Jul 1;103(7):2563-2570. doi: 10.1210/jc.2018-00107. PMID: 29860500
Sheikh AS, Sheikh SA, Mohamed MA
J Pak Med Assoc 2014 Oct;64(10):1179-85. PMID: 25823161

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