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Inherited disorders

Hyperhomocystinaemia

About: Gene mutation for methylene tetrahydrofolate reductase (MTHFR) C667Tx or methioninesynthetase

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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