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Metabolic Encephalopathy (Methylmalonic and Malonic Aciduria)
  • Description
  • Signalment
  • Clinical Features
  • Neurolocalization
  • Genetics
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Methylmalonic and Malonic Aciduria is a deficiency in several enzymes which causes defects in the catabolism of organic acids leading to the accumulation of malonic acid and methylmalonic acid in cells.
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:
Behavioral/Mental Awareness
Abnormal mentation

Posture and Appearance
Extensor rigidity in all limbs
Extended neck

Movement
Ataxic
Circling
Dystonia
“Stiffness” in all limbs
Tetraparesis

Proprioception
Proprioceptive deficits

Cranial Nerves
Decreased menace response
Decreased oculocephalic reflex
Strabismus

Spinal Reflexes
Decreased withdrawal reflex

Special Reflexes (e.g. cutaneous trunci)
Diminished gag reflex

Muscle Atrophy
Generalized muscle atrophy

Other
Anorexic
Polydypsia/polyuria

Chemistry findings: Metabolic acidosis, hypoglycemia
Urinalysis findings: Ketonuria

Brain and spinal cord
Unknown
To read more about this disease click below:
References
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