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Alpha-methylacyl-CoA racemase deficiency(AMACRD)

MedGen UID:
348911
Concept ID:
C1858325
Disease or Syndrome
Synonyms: AMACR DEFICIENCY; AMACRD
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): AMACR (5p13.2)
OMIM®: 614307

Definition

AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010). [from OMIM]

Additional description

From GHR
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. They may also have acute episodes of brain dysfunction (encephalopathy) similar to stroke, involving altered consciousness and areas of damage (lesions) in the brain. Other features of AMACR deficiency may include weakness and loss of sensation in the limbs due to nerve damage (sensorimotor neuropathy), muscle stiffness (spasticity), and difficulty coordinating movements (ataxia). Vision problems caused by deterioration of the light-sensitive layer at the back of the eye (the retina) can also occur in this disorder.  http://ghr.nlm.nih.gov/condition/alpha-methylacyl-coa-racemase-deficiency

Clinical features

Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Pigmentary retinopathy
MedGen UID:
504507
Concept ID:
CN000544
Finding
Tremor
MedGen UID:
776582
Concept ID:
C2364114
Finding
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Migraine
MedGen UID:
505085
Concept ID:
CN001878
Finding
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Status epilepticus
MedGen UID:
505118
Concept ID:
CN001933
Finding
Seizures lasting for more than 30 minutes or longer or multiple seizures repeated frequently without regaining consciousness between seizures.
Sensorimotor neuropathy
MedGen UID:
429082
Concept ID:
CN006238
Finding
Abnormality of the liver
MedGen UID:
428258
Concept ID:
CN001274
Finding
An abnormality of the liver.
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

Recent clinical studies

Etiology

Ferdinandusse S, van Grunsven EG, Oostheim W, Denis S, Hogenhout EM, IJlst L, van Roermund CW, Waterham HR, Goldfischer S, Wanders RJ
Am J Hum Genet 2002 Jun;70(6):1589-93. Epub 2002 Apr 23 doi: 10.1086/340970. [Epub ahead of print] PMID: 11992265Free PMC Article
Ferdinandusse S, Overmars H, Denis S, Waterham HR, Wanders RJ, Vreken P
J Lipid Res 2001 Jan;42(1):137-41. PMID: 11160375
Ferdinandusse S, Denis S, IJlst L, Dacremont G, Waterham HR, Wanders RJ
J Lipid Res 2000 Nov;41(11):1890-6. PMID: 11060359

Diagnosis

Haugarvoll K, Johansson S, Tzoulis C, Haukanes BI, Bredrup C, Neckelmann G, Boman H, Knappskog PM, Bindoff LA
Orphanet J Rare Dis 2013 Jan 3;8:1. doi: 10.1186/1750-1172-8-1. [Epub ahead of print] PMID: 23286897Free PMC Article
Verhagen JM, Huijmans JG, Williams M, van Ruyven RL, Bergen AA, Wouters CH, Brooks AS
Am J Med Genet A 2012 Nov;158A(11):2931-4. Epub 2012 Sep 17 doi: 10.1002/ajmg.a.35611. [Epub ahead of print] PMID: 22987308
Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S349-53. Epub 2010 Sep 4 doi: 10.1007/s10545-010-9183-6. [Epub ahead of print] PMID: 20821052
Thompson SA, Calvin J, Hogg S, Ferdinandusse S, Wanders RJ, Barker RA
J Neurol Neurosurg Psychiatry 2008 Apr;79(4):448-50. Epub 2007 Nov 21 doi: 10.1136/jnnp.2007.129478. [Epub ahead of print] PMID: 18032455
Ferdinandusse S, Overmars H, Denis S, Waterham HR, Wanders RJ, Vreken P
J Lipid Res 2001 Jan;42(1):137-41. PMID: 11160375

Therapy

Clarke CE, Alger S, Preece MA, Burdon MA, Chavda S, Denis S, Ferdinandusse S, Wanders RJ
Neurology 2004 Jul 13;63(1):188-9. PMID: 15249642

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