Acute Metabolic Presentations comep oct 2010

ACUTE METABOLIC PRESENTATIONS in ADULTS Dr. Peter Galloway, Royal Hospital for Sick Children / Glasgow Royal Infirmary, Glasgow

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Certain diseases usually appear at specific ages But Age at Presentation depends on degree of enzyme deficiency and challenges an individual faces Complete absence – very poor prognosis. Even with families with same defect, very different age of presentation

Classification ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Clinical ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Screening ,[object Object],[object Object]

Adult Metabolic Clinic GRI ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

CRITICAL ACUTE PRESENTATIONS ,[object Object],[object Object],[object Object],[object Object],[object Object]

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19 year old female ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

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MCAD ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

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MCAD ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

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Cystathionine  synthase deficiency- clinical picture ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Methionine Diet Homocysteine Cystathionine Cysteine 5-10 MTHF 5 MTHF THF MS BHMT Dimethylgycine Betaine S-Adomet S-AdoHom MTHFR CBS B12 B6 B6 SO 4 2-

VASCULAR EVENT ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ornithine transcarbamylase deficiency ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

UREA CYCLE ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Recurring Encephalopathy ,[object Object],[object Object]

Aminogenic Coma following UTEROSIGMOIDOSTOMY ,[object Object],[object Object],[object Object],[object Object]

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Psychiatric Disorders ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

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Acute Metabolic Presentations comep oct 2010

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Acute Metabolic Presentations comep oct 2010