U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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 characterized 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: 30535831Free PMC Article
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

Tonduti D, Vanderver A, Berardinelli A, Schmidt JL, Collins CD, Novara F, Genni AD, Mita A, Triulzi F, Brunstrom-Hernandez JE, Zuffardi O, Balottin U, Orcesi S
J Child Neurol 2013 Jun;28(6):795-800. Epub 2012 Jul 17 doi: 10.1177/0883073812450944. PMID: 22805248Free PMC Article
Burlina AP, Schmitt B, Engelke U, Wevers RA, Burlina AB, Boltshauser E
Adv Exp Med Biol 2006;576:283-7; discussion 361-3. doi: 10.1007/0-387-30172-0_20. PMID: 16802720
van der Knaap MS, Bakker HD, Valk J
AJNR Am J Neuroradiol 1998 Feb;19(2):378-82. PMID: 9504498Free PMC Article
Johannik K, Van Hecke P, François B, Marchal G, Smet MH, Jaeken J, Breysem L, Wilms G, Baert AL
Magn Reson Med 1994 Jan;31(1):53-7. doi: 10.1002/mrm.1910310108. PMID: 8121269
Elpeleg ON, Shaag A, Anikster Y, Jakobs C
J Inherit Metab Dis 1994;17(6):664-6. doi: 10.1007/BF00712008. PMID: 7707689

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
Oner AY, Cansu A, Akpek S, Serdaroglu A
Pediatr Radiol 2007 Oct;37(10):1050-2. Epub 2007 Aug 18 doi: 10.1007/s00247-007-0572-4. PMID: 17704911
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-Matalon K
Adv Pediatr 1999;46:493-506. PMID: 10645473
Matalon R, Michals-Matalon K
Eur J Paediatr Neurol 1998;2(2):69-76. doi: 10.1016/s1090-3798(98)80044-5. PMID: 10724099

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: 30535831Free PMC Article
Yazigi Solis M, de Salles Painelli V, Giannini Artioli G, Roschel H, Concepción Otaduy M, Gualano B
Br J Nutr 2014 Apr 14;111(7):1272-4. Epub 2013 Nov 29 doi: 10.1017/S0007114513003802. PMID: 24290771
Plazzi G, Parmeggiani A, Mignot E, Lin L, Scano MC, Posar A, Bernardi F, Lodi R, Tonon C, Barbiroli B, Montagna P, Cicognani A
Neurology 2006 May 23;66(10):1577-9. doi: 10.1212/01.wnl.0000216142.21375.71. PMID: 16717224
Pryce G, Ahmed Z, Hankey DJ, Jackson SJ, Croxford JL, Pocock JM, Ledent C, Petzold A, Thompson AJ, Giovannoni G, Cuzner ML, Baker D
Brain 2003 Oct;126(Pt 10):2191-202. Epub 2003 Jul 22 doi: 10.1093/brain/awg224. PMID: 12876144
Leone P, Janson CG, McPhee SJ, During MJ
Curr Opin Mol Ther 1999 Aug;1(4):487-92. PMID: 11713764

Prognosis

Tonduti D, Vanderver A, Berardinelli A, Schmidt JL, Collins CD, Novara F, Genni AD, Mita A, Triulzi F, Brunstrom-Hernandez JE, Zuffardi O, Balottin U, Orcesi S
J Child Neurol 2013 Jun;28(6):795-800. Epub 2012 Jul 17 doi: 10.1177/0883073812450944. PMID: 22805248Free PMC Article
Matalon R, Michals-Matalon K
Eur J Paediatr Neurol 1998;2(2):69-76. doi: 10.1016/s1090-3798(98)80044-5. PMID: 10724099
van der Knaap MS, Bakker HD, Valk J
AJNR Am J Neuroradiol 1998 Feb;19(2):378-82. PMID: 9504498Free PMC Article
Elpeleg ON, Shaag A, Anikster Y, Jakobs C
J Inherit Metab Dis 1994;17(6):664-6. doi: 10.1007/BF00712008. PMID: 7707689
Zelnik N, Luder AS, Elpeleg ON, Gross-Tsur V, Amir N, Hemli JA, Fattal A, Harel S
Dev Med Child Neurol 1993 Apr;35(4):355-8. doi: 10.1111/j.1469-8749.1993.tb11649.x. PMID: 8335152

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
Sijens PE, Fock JM, Meiners LC, Potze JH, Irwan R, Oudkerk M
Brain Dev 2007 Jun;29(5):317-21. Epub 2006 Nov 17 doi: 10.1016/j.braindev.2006.10.004. PMID: 17113260
Moreno A, Ross BD, Blüml S
J Neurochem 2001 Apr;77(1):347-50. doi: 10.1046/j.1471-4159.2001.t01-1-00282.x. PMID: 11279290
Elpeleg ON, Shaag A, Anikster Y, Jakobs C
J Inherit Metab Dis 1994;17(6):664-6. doi: 10.1007/BF00712008. PMID: 7707689
Barker PB, Bryan RN, Kumar AJ, Naidu S
Neuropediatrics 1992 Oct;23(5):263-7. doi: 10.1055/s-2008-1071355. PMID: 1454147

Recent systematic reviews

Saccaro LF, Tassone M, Tozzi F, Rutigliano G
J Affect Disord 2024 Jun 15;355:265-282. Epub 2024 Mar 28 doi: 10.1016/j.jad.2024.03.150. PMID: 38554884
Abbott C, Bustillo J
Curr Opin Psychiatry 2006 Mar;19(2):135-9. doi: 10.1097/01.yco.0000214337.29378.cd. PMID: 16612192

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...