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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
Absent proprioceptive placing of limbs

Cranial Nerves
Decreased menace response
Unilateral resting dilated pupil with decreased oculocephalic reflex
Strabismus

Spinal Reflexes
Decreased withdrawal reflex
Hyperreflexive bilateral patellar reflex

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

Muscle Atrophy
Generalized muscle wasting

Other
Anorexic
Acidotic
Hypoglycemia
Ketonuria
Polydipsia
Brain and spinal cord
Unknown
To read more about this disease click below:
References
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