alpha-methylacyl-CoA racemase deficiency
A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.
Also known as: AMACR, AMACR deficiency, alpha-methylacyl-CoA racemase deficiency, AMACRD.
Category: General
Symptoms associated with alpha-methylacyl-CoA racemase deficiency
The following symptoms have been associated with alpha-methylacyl-CoA racemase deficiency in medical literature. Not everyone experiences the same symptoms.
Depression
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these m...
Focal-onset seizure
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be ...
Hemiparesis
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete ...
Intention tremor
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an o...
Migraine
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated sympt...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Tests used to investigate alpha-methylacyl-CoA racemase deficiency
Healthcare providers may order these tests when evaluating alpha-methylacyl-CoA racemase deficiency. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with alpha-methylacyl-CoA racemase deficiency, which is why a clinical evaluation is important.
MELAS
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Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
Niemann-Pick disease type C
Niemann-Pick disease type C is a medical condition that may be associated with various symptoms and signs....
Sneddon syndrome
Sneddon syndrome is a medical condition that may be associated with various symptoms and signs....
leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy
leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy is a medical condition that may be...
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
A neurodevelopmental disorder caused by a variation in the UNC13A gene, characterized by variable degrees of d...
Frequently Asked Questions
What is alpha-methylacyl-CoA racemase deficiency?
alpha-methylacyl-CoA racemase deficiency is a health condition described in medical literature. A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.
What are the symptoms of alpha-methylacyl-CoA racemase deficiency?
alpha-methylacyl-CoA racemase deficiency is associated with 8 symptoms in the medical literature we index, including Depression, Focal-onset seizure, Hemiparesis, Intention tremor, Migraine, Seizure. Symptoms vary widely between individuals.
How is alpha-methylacyl-CoA racemase deficiency diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with alpha-methylacyl-CoA racemase deficiency include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have alpha-methylacyl-CoA racemase deficiency, please discuss your symptoms with a qualified healthcare provider.