ChemPath from metabolic disorders Flashcards

1
Q

Raised phenylalanine, blue eyes, fair skin (give Tx)

A

PKU → restrict phenylalanine

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2
Q

Sweaty feet

A

Maple syrup urine

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3
Q

Metabolic acidosis, raised anion gap, funny smelling urine (+ Tx)

A

Organic acidaemia → low protein diet

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4
Q

Raised ammonia, encephalopathy, respiratory alkalosis (+ Tx)

A

Urea cycle defect → low protein diet

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5
Q

Low ketones, raised acylcarnitine on tandem mass spectrometry (+ Tx)

A

MCADD → never allow to be hypoglycaemic → regular carbs

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6
Q

Bilateral cataracts, hypoglycaemia, renal/kidney dysfunction, raised galactose in urine (+ Tx)

A

Galactosaemia → low galactose diet

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7
Q

Hypoglycaemia, hepatomegaly, lactic acidosis (+ Tx)

A

Glycogen storage disease (Von Gierke’s) → high carb diet

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8
Q

Dysmorphic features, multi-system disease, raised transferrin

A

Glycosylation disorder

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9
Q

Severe hypotonia with retinopathy

A

Peroxisomal disorder

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10
Q

urine mucopolysaccharides + organomegaly

A

Tay Sachs / lysosomal storage disease

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11
Q

Lactic acidosis, brain + muscle + heart involvement

A

MELAS (mitochondrial encephalopathy lactic acidosis syndrome)

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12
Q

Abdominal pain, peripheral neuropathy, psychosis, red urine, constipation + blistering on the back of hands in the sun

A

Hereditary porphyria (COPOX) OR variegate porphyria (PPOX)

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13
Q

Abdominal pain, peripheral neuropathy, psychosis, red urine, constipation, weakness

A

Acute intermittent porphyria (HMB synthase) OR ALA-S deficiency

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14
Q

Stool sample → faecal coproporphyrinogen III

A

Hereditary or variegate porphyria

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15
Q

Urine sample → porphobilinogen and aminolevulinic acid

A

Acute intermittent porphyria

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16
Q

pink/red fluorescence on wood’s lamp, abnormal LFTs, raised ferritin

A

Blistering chronic prophyria → Porphyria Cutanea Tarda (PCT)PCT

17
Q

RBC protoporphyrin

A

Non-blistering chronic porphyria → EPP