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Matt's Path > Metabolic, urea, > Flashcards

Metabolic, urea, Flashcards

1
Q

phenylacetic acid in urine

A

Phenylketonuria

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2
Q

Lens dislocation
Mental retardation
Thromboembolism

A

Homocysteinuria

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3
Q

E.coli sepsis
Conjugated jaundice
Vomiting, diarrhoea, hepatomegaly

A

Galactosaemia

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4
Q

Hyperammonia + Metabolic acidosis

A

Organic aciduria

Isovaleric acidaemia

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5
Q

Gal-1-PUT

A

Galactosaemia

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6
Q

Lactic acidosis
Hypoglycaemia
Neutropenia
Hepatomegaly

A

GSD 1 (von Gierke’s)

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7
Q

Glucose 6 phosphatase deficiency

A

GSD 1 (von Gierke’s)

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8
Q

Fasting lactate higher than the fed lactate

A

Mitochondrial disease

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9
Q

Severe muscular hypotonia

A

Peroxisomal disorders

Lab: very long chain fatty acids

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Matt's Path (18 decks)

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