AR. Chr 15. Defective AA transport in the kidney
Hartnup Disease
Hartnup disease can cause
Paroxysmal ataxia
Developmental delay. Rash (pellagra-like) after sun exposure. Episodic limb ataxia.
Hartnup Disease
To treat hartnup disease give
High protein diet
Disorder of branched chain AA metabolism
Maple syrup urine disease
Maple syrup urine disease causes
Paroxysmal ataxia
AR. Three phenotypes. Attacks begin before age 2. Brought about by stress, infection, and surgery. See ataxia, lethargy, and irritability.
Maple syrup urine disease
Protein restricted diet with thiamine supplements
Maple syrup urine disease
Defect in E1 component of pyruvate dehydrogenase complex
Pyruvate dehydrogenase deficiency
Pyruvate does not undergo decarboxylation to CO2 and acetyl CoA
Pyruvate dehydrogenase deficiency
Causes increased lactate and pyruvate. Spontaneous or triggered attacks of ataxia with lethargy
Pyruvate dehydrogenase deficiency
Use daily acetazolamide to reduce attacks. Give ketogenic diet
Pyruvate dehydrogenase deficiency
Mutation of K channel. Brief attacks.
Episodic Ataxia Type 1
Give phenytoin, carbamazepine, and acetazolamide
Episodic Ataxia Type 1
Mutation of Ca channel. Attacks last for days.
Episodic ataxia type 2
Episodic ataxias are related to familial
Hemiplegic migraines
Truncal ataxia >
Vermis
Limb ataxia >
Hemispheres
Eye mvmts >
Brainstem
