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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:
375512
Concept ID:
C1844806
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
The act of injuring one''s own body to the extent of cutting off or permanently destroying a limb or other essential part of a body.
Stereotypic movement disorder
MedGen UID:
21320
Concept ID:
C0038273
Mental or Behavioral Dysfunction
A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
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 but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.
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.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
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
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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

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
Lam WW, Wang ZJ, Zhao H, Berry GT, Kaplan P, Gibson J, Kaplan BS, Bilaniuk LT, Hunter JV, Haselgrove JC, Zimmermann RA
Neuroradiology 1998 May;40(5):315-23. doi: 10.1007/s002340050592. PMID: 9638674

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
Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J
Am J Med Genet 1988 Feb;29(2):463-71. doi: 10.1002/ajmg.1320290234. PMID: 3354621

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

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
Shinno H, Inagaki T, Miyaoka T, Okazaki S, Kawamukai T, Utani E, Inami Y, Horiguchi J
J Neurol Sci 2007 Sep 15;260(1-2):132-8. Epub 2007 May 30 doi: 10.1016/j.jns.2007.04.017. PMID: 17540407
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
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
Shinno H, Inagaki T, Miyaoka T, Okazaki S, Kawamukai T, Utani E, Inami Y, Horiguchi J
J Neurol Sci 2007 Sep 15;260(1-2):132-8. Epub 2007 May 30 doi: 10.1016/j.jns.2007.04.017. PMID: 17540407
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

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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