Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Matt's Path COPY > Metabolic, urea, > Flashcards

Metabolic, urea, Flashcards

1
Q

phenylacetic acid in urine

A

Phenylketonuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Lens dislocation
Mental retardation
Thromboembolism

A

Homocysteinuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

E.coli sepsis
Conjugated jaundice
Vomiting, diarrhoea, hepatomegaly

A

Galactosaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Hyperammonia + Metabolic acidosis

A

Organic aciduria

Isovaleric acidaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Gal-1-PUT

A

Galactosaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Lactic acidosis
Hypoglycaemia
Neutropenia
Hepatomegaly

A

GSD 1 (von Gierke’s)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Glucose 6 phosphatase deficiency

A

GSD 1 (von Gierke’s)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Fasting lactate higher than the fed lactate

A

Mitochondrial disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Severe muscular hypotonia

A

Peroxisomal disorders

Lab: very long chain fatty acids

How well did you know this?
1
Not at all
2
3
4
5
Perfectly

Matt's Path COPY (18 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions