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N-acetylaspartate deficiency(NACED)

MedGen UID:
481346
Concept ID:
C3279716
Disease or Syndrome
Synonyms: HYPOACETYLASPARTIA; NAA DEFICIENCY; NACED
 
Gene (location): NAT8L (4p16.3)
 
Monarch Initiative: MONDO:0013549
OMIM®: 614063

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Decreased body weight
MedGen UID:
1806755
Concept ID:
C5574742
Finding
Abnormally low body weight.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Self-mutilation
MedGen UID:
19925
Concept ID:
C0036601
Injury or Poisoning
Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.
Motor stereotypies
MedGen UID:
21318
Concept ID:
C0038271
Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
Short attention span
MedGen UID:
82652
Concept ID:
C0262630
Finding
Reduced attention span characterized by distractibility and impulsivity.
Truncal ataxia
MedGen UID:
96535
Concept ID:
C0427190
Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Broad-based gait
MedGen UID:
167799
Concept ID:
C0856863
Finding
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Reduced brain N-acetyl aspartate level by MRS
MedGen UID:
868367
Concept ID:
C4022761
Finding
A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).
Delayed ability to sit
MedGen UID:
1368737
Concept ID:
C4476710
Finding
A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Secondary microcephaly
MedGen UID:
608952
Concept ID:
C0431352
Finding
Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.

Professional guidelines

PubMed

Pleasure D, Guo F, Chechneva O, Bannerman P, McDonough J, Burns T, Wang Y, Hull V
Neurochem Res 2020 Mar;45(3):561-565. Epub 2018 Dec 8 doi: 10.1007/s11064-018-2693-6. PMID: 30535831
Bennett MJ, Gibson KM, Sherwood WG, Divry P, Rolland MO, Elpeleg ON, Rinaldo P, Jakobs C
J Inherit Metab Dis 1993;16(5):831-6. doi: 10.1007/BF00714274. PMID: 8295397
Matalon R, Michals K, Gashkoff P, Kaul R
J Inherit Metab Dis 1992;15(3):392-4. doi: 10.1007/BF02435985. PMID: 1405477

Recent clinical studies

Etiology

Mastaloudis A, Sheth C, Hester SN, Wood SM, Prescot A, McGlade E, Renshaw PF, Yurgelun-Todd DA
Free Radic Biol Med 2020 Jun;153:112-121. Epub 2020 Apr 23 doi: 10.1016/j.freeradbiomed.2020.04.017. PMID: 32335159
Kartha RV, Joers J, Terluk MR, Travis A, Rudser K, Tuite PJ, Weinreb NJ, Jarnes JR, Cloyd JC, Öz G
J Inherit Metab Dis 2020 May;43(3):564-573. Epub 2019 Dec 17 doi: 10.1002/jimd.12182. PMID: 31613991Free PMC Article
Muelly ER, Moore GJ, Bunce SC, Mack J, Bigler DC, Morton DH, Strauss KA
J Clin Invest 2013 Apr;123(4):1809-20. Epub 2013 Mar 8 doi: 10.1172/JCI67217. PMID: 23478409Free PMC Article
Rupsingh R, Borrie M, Smith M, Wells JL, Bartha R
Neurobiol Aging 2011 May;32(5):802-10. Epub 2009 Jun 6 doi: 10.1016/j.neurobiolaging.2009.05.002. PMID: 19501936
van Dam PS, de Winter CF, de Vries R, van der Grond J, Drent ML, Lijffijt M, Kenemans JL, Aleman A, de Haan EH, Koppeschaar HP
Psychoneuroendocrinology 2005 May;30(4):357-63. Epub 2005 Jan 12 doi: 10.1016/j.psyneuen.2004.10.002. PMID: 15694115

Diagnosis

Pardo B, Herrada-Soler E, Satrústegui J, Contreras L, Del Arco A
Int J Mol Sci 2022 Jan 4;23(1) doi: 10.3390/ijms23010528. PMID: 35008954Free PMC Article
Takanashi J
Magn Reson Med Sci 2015;14(2):85-91. doi: 10.2463/mrms.2014-0064. PMID: 26185828
Abbott C, Bustillo J
Curr Opin Psychiatry 2006 Mar;19(2):135-9. doi: 10.1097/01.yco.0000214337.29378.cd. PMID: 16612192
Gujar SK, Maheshwari S, Björkman-Burtscher I, Sundgren PC
J Neuroophthalmol 2005 Sep;25(3):217-26. doi: 10.1097/01.wno.0000177307.21081.81. PMID: 16148633
Yalçinkaya C, Dinçer A, Gündüz E, Fiçicioğlu C, Koçer N, Aydin A
Pediatr Neurol 1999 May;20(5):375-80. doi: 10.1016/s0887-8994(99)00013-2. PMID: 10371384

Therapy

Pleasure D, Guo F, Chechneva O, Bannerman P, McDonough J, Burns T, Wang Y, Hull V
Neurochem Res 2020 Mar;45(3):561-565. Epub 2018 Dec 8 doi: 10.1007/s11064-018-2693-6. PMID: 30535831
von Jonquieres G, Spencer ZHT, Rowlands BD, Klugmann CB, Bongers A, Harasta AE, Parley KE, Cederholm J, Teahan O, Pickford R, Delerue F, Ittner LM, Fröhlich D, McLean CA, Don AS, Schneider M, Housley GD, Rae CD, Klugmann M
Acta Neuropathol 2018 Jan;135(1):95-113. Epub 2017 Nov 7 doi: 10.1007/s00401-017-1784-9. PMID: 29116375Free PMC Article
Yorns WR Jr, Hardison HH
Semin Pediatr Neurol 2013 Sep;20(3):188-93. doi: 10.1016/j.spen.2013.09.002. PMID: 24331360
van Dam PS, de Winter CF, de Vries R, van der Grond J, Drent ML, Lijffijt M, Kenemans JL, Aleman A, de Haan EH, Koppeschaar HP
Psychoneuroendocrinology 2005 May;30(4):357-63. Epub 2005 Jan 12 doi: 10.1016/j.psyneuen.2004.10.002. PMID: 15694115
Surendran S, Michals-Matalon K, Quast MJ, Tyring SK, Wei J, Ezell EL, Matalon R
Mol Genet Metab 2003 Sep-Oct;80(1-2):74-80. doi: 10.1016/j.ymgme.2003.08.015. PMID: 14567959

Prognosis

Kartha RV, Joers J, Terluk MR, Travis A, Rudser K, Tuite PJ, Weinreb NJ, Jarnes JR, Cloyd JC, Öz G
J Inherit Metab Dis 2020 May;43(3):564-573. Epub 2019 Dec 17 doi: 10.1002/jimd.12182. PMID: 31613991Free PMC Article
von Jonquieres G, Spencer ZHT, Rowlands BD, Klugmann CB, Bongers A, Harasta AE, Parley KE, Cederholm J, Teahan O, Pickford R, Delerue F, Ittner LM, Fröhlich D, McLean CA, Don AS, Schneider M, Housley GD, Rae CD, Klugmann M
Acta Neuropathol 2018 Jan;135(1):95-113. Epub 2017 Nov 7 doi: 10.1007/s00401-017-1784-9. PMID: 29116375Free PMC Article
Muelly ER, Moore GJ, Bunce SC, Mack J, Bigler DC, Morton DH, Strauss KA
J Clin Invest 2013 Apr;123(4):1809-20. Epub 2013 Mar 8 doi: 10.1172/JCI67217. PMID: 23478409Free PMC Article
Abbott C, Bustillo J
Curr Opin Psychiatry 2006 Mar;19(2):135-9. doi: 10.1097/01.yco.0000214337.29378.cd. PMID: 16612192
Gordon N
Eur J Paediatr Neurol 2001;5(2):65-9. doi: 10.1053/ejpn.2001.0467. PMID: 11589315

Clinical prediction guides

Pardo B, Herrada-Soler E, Satrústegui J, Contreras L, Del Arco A
Int J Mol Sci 2022 Jan 4;23(1) doi: 10.3390/ijms23010528. PMID: 35008954Free PMC Article
Gramegna LL, Pisano A, Testa C, Manners DN, D'Angelo R, Boschetti E, Giancola F, Pironi L, Caporali L, Capristo M, Valentino ML, Plazzi G, Casali C, Dotti MT, Cenacchi G, Hirano M, Giordano C, Parchi P, Rinaldi R, De Giorgio R, Lodi R, Carelli V, Tonon C
AJNR Am J Neuroradiol 2018 Mar;39(3):427-434. Epub 2018 Jan 18 doi: 10.3174/ajnr.A5507. PMID: 29348134Free PMC Article
von Jonquieres G, Spencer ZHT, Rowlands BD, Klugmann CB, Bongers A, Harasta AE, Parley KE, Cederholm J, Teahan O, Pickford R, Delerue F, Ittner LM, Fröhlich D, McLean CA, Don AS, Schneider M, Housley GD, Rae CD, Klugmann M
Acta Neuropathol 2018 Jan;135(1):95-113. Epub 2017 Nov 7 doi: 10.1007/s00401-017-1784-9. PMID: 29116375Free PMC Article
Yorns WR Jr, Hardison HH
Semin Pediatr Neurol 2013 Sep;20(3):188-93. doi: 10.1016/j.spen.2013.09.002. PMID: 24331360
Yalçinkaya C, Dinçer A, Gündüz E, Fiçicioğlu C, Koçer N, Aydin A
Pediatr Neurol 1999 May;20(5):375-80. doi: 10.1016/s0887-8994(99)00013-2. PMID: 10371384

Recent systematic reviews

Abbott C, Bustillo J
Curr Opin Psychiatry 2006 Mar;19(2):135-9. doi: 10.1097/01.yco.0000214337.29378.cd. PMID: 16612192

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