Metabolic Encephalopathy (secondary to Mitochondrial Fatty Acid Oxidation Defect (FAOD))
Mitochondrial organic aciduric encephalopathies result from a congenital defect in beta-oxidation which reduces cell's ability to utilize fat leading to excessive accumulation within the central nervous system.
Age of Onset: Less than 6 months of age
Sex Predisposition: Any sex of animal may be affected
Clinical Course:
Clinical signs worsen over time
Clinical signs worsen over time
Clinical Signs:
Behavioral/Mental Awareness
Abnormal mentation
Posture and Appearance
Extensor rigidity in all limbs
Extended neck
Movement
Ataxic
Circling
Dystonia
“Stiffness” in all limbs
Tetraparesis
Generalized tremors
Proprioception
Proprioceptice deficits
Cranial Nerves
Decreased menace response
Strabismus
Positionial vertical nystagmus
Spinal Reflexes
Decreased withdrawal reflex
Hyperreflexive patellar reflexes
Special Reflexes (e.g. cutaneous trunci)
Diminished gag reflex
Muscle Atrophy
Generalized muscle wasting
Other
Anorexic
Acidotic
Hypoglycemia
Ketonuria
Polydipsia
Behavioral/Mental Awareness
Abnormal mentation
Posture and Appearance
Extensor rigidity in all limbs
Extended neck
Movement
Ataxic
Circling
Dystonia
“Stiffness” in all limbs
Tetraparesis
Generalized tremors
Proprioception
Proprioceptice deficits
Cranial Nerves
Decreased menace response
Strabismus
Positionial vertical nystagmus
Spinal Reflexes
Decreased withdrawal reflex
Hyperreflexive patellar reflexes
Special Reflexes (e.g. cutaneous trunci)
Diminished gag reflex
Muscle Atrophy
Generalized muscle wasting
Other
Anorexic
Acidotic
Hypoglycemia
Ketonuria
Polydipsia
Multifocal CNS (brain and spinal cord)
Primary malonic aciduria in humans is most often associated with a deficiency of the enzyme (MCD) that metabolizes malonyl-CoA, however there is no evidence to support this in animals.
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