Brainscape's Knowledge GenomeTM

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


See full index

Biochem Diseases > Nitrogen Metabolism > Flashcards

Nitrogen Metabolism Flashcards

0
Q

Congenital deficiency of Homogentisic acid oxidase

A

Alkaptonuria

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

Phenylalanine hydroxylase deficiency

A

Phenylketonuria

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

Tyrosinase deficiency

A

Albinism

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

Autoimmune destruction of melanocytes

A

vitiligo

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

Congenital impairment of melanin synthesis

A

albinism

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

A-ketoacid dehydrogenase deficiency

A

Maple syrup urine disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q 
Inherited defect of renal tubular amino acid transporter for
Cysteine
Ornithine
Lysine
Arginin
A

Cystinuria

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

Cystathionine synthase deficiency

A

Homocystinuria

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

Kidney stone that favors ALKALINE urine

A

Struvite stone

Mg alkaline phosphate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q 
Mental retardation
Growth retardation
Fair skin
Eczema 
Musty odor
A

PKU

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Urine turn black on standing
Connective tissue is dark
Debilitating arthralgias

A

Alkaptonuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

⬆️ risk of skin cancerlack of migration of neural crest cell

A

Albinism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Tall stature
Mental retardation
Osteoporosis
Lens sublaxation (downward and inward)

A

Hocystinuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Photosensitivity
Abdominal pain
Neuropsychiatric symptoms

A

Porphyrias

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

2 enzymes deactivated by LEAD POISONING

A

Ferrochelatase

ALA dehydratase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Uroporphyrinigen decarboxylase deficiency

Photosensitivity

A

Porphyria cutanea tarda

16
Q

Uroporphyrinogen 1 synthase deficiency

A

Abdominal pain
Neuropsychiatric symptoms
NO PHOTOSENSITIVITY

17
Q

ALA Synthase deficiency manifesting as anemia

A

X-linked sideroblastic anemia

18
Q

Pyridoxine deficiency associated with ISONIAZID therapy

A

Sideroblastic anemia with ringed sideroblast

19
Q

Test to measure total and direct bilirubin

A

Van den bergh reaction

Biochem Diseases (6 decks)

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