Learning objectives
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Hyperhomocystinaemia
About: Gene mutation for methylene tetrahydrofolate reductase (MTHFR) C667Tx or methionine synthetase
Aetiology: MTHFR is involved in the methylation of homocysteine to methionine
Clinical: Arterial and venous thrombosis (intracranial) , Strokes, Acute coronary syndrome
Investigations: high level of homocysteine in human blood
Management: Folate supplementation + Pyridoxine + B12 , Low methionine and high cysteine diet , Trimethylglycine which promotes the conversion of homocysteine back to methionine
Homocystinuria
About: Rare autosomal recessive disorder Aetiology: Cystathionine beta synthase deficiency
Clinical: Marfanoid appearance , Learning disorder , Ectopic lentis and optic atrophy , Stroke due to arterial and venous thrombosis (intracranial)
Investigations: Increased excretion of homocysteine in the urine , cystathionine beta synthase deficiency
Management: Folate supplementation + Pyridoxine + B12 , Low methionine and high cysteine diet , Trimethylglycine which promotes the conversion of homocysteine back to methionine
Fabry's disease
About: Inherited or spontaneous gene mutation , Usually X linked recessive , Stroke is only one of many manifestations
Aetiology: Deficiency of alpha galactosidase in cell lyzosomes , Build up of glycosphingolipids
Clinical: Burning pains in the limbs "acroparaesthesia" starts in adolescence or before. Worse with exercise. , Purplish angiokeratomas on abdomen, umbilicus and genital areas , Corneal verticillata detectable by slit lamp examination , Decreased sweating , Cardiac - conduction abnormalities Investigations: ESR may be elevated , ECG - non specific changes and conduction abnormalities , Proteinuria and progressive renal failure
MRI - may show small vessel stroke , a -Gal A activity may be measured in plasma, serum, and leukocytes , DNA analysis
Management: Management of neuropathic pain with usual therapies , Enzyme replacement in all males and symptomatic females is recommended and can reduce complications , Pacing if required , Renal replacement
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