Brainscape's Knowledge GenomeTM

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


See full index

Neo Board Review > Metabolics > Flashcards

Metabolics Flashcards

1
Q

Hyperammonemia, what to check next

A

Assess for acidosis and ketouria

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

Etiologies of hyperammonemia and acidosis without ketosis

A

FAOD

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

Hyperammonemia without acidosis or ketosis etiology

A

Check plasma citrus line

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

Hyperammonemia with ketosis and acidosis etiology

A

Lactic acidemia
Glutaric aciduria
Pyruvate carboxylase deficiency
B methylcrotonyl glycinuria
Propionic, methylmalonic and isovaleric acidurias

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

Initial evaluation of an infant with possible metabolic disorder

A

CBC (for neutropenia and thrombocytopenia)
Electrolytes and arterial blood gas (for acidosis/alkalosis, anion gap)
Glucose
Calcium
Plasma ammonia
Lactate and pyruvate
LFTs
PT
Ketones
Reducing substances
NBS

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

Secondary evaluation for targeted eval of infant with possible metabolic disorder

A

PAA
UOA
plasma carnitine and acylcarnitine profile
Plasma uric acid
BHOB and FFA
CSF amino acid analysis
Peroxisomal function tests

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

Galactosemia cause, inheritance, symptoms

A

Galactose 1 phosphate uridyl transferase - if absent classic Galactosemia

AR

Poor feeding, vomiting, jaundice, liver failure, lethargy, renal, tubular, dysfunction, hepatomegaly , E. coli infections

Labs: increased LFT, increased indirect bili and later elevated d bili, low glucose, increased galactose in urine

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

Next steps after abnormal galactose on NBS

A

Change to non lactose diet
Check lft, urine reducing substances, galactose 1 phosphate
Quantitative rbc GALT assay 

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

Galactokinase deficiency
Inheritance, clinical presentation, abnormal newborn screen 

A

AR
Cataracts
If elevated galactose and normal RBC GALT
Test for urine reducing substances and then test for galactokinase if present reducing substances OR test epimerase if absent reducing substances

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

Glycogen storage diseases that effect liver

A

Also have direct influence on blood glucose
Type I (Von gierke), 6 (Hers), 8

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

GSD that effect muscle and anaerobic work

A

Type 5 (mcardle) and 7 (tarui)

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

GSD that effect both liver and muscle

A

Type 3 (Forbes)

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

GSD that affect various tissues yet no direct effect on blood glucose or anaerobic function

A

Type 2 (pompe) and type 4 (Andersen)

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

Neonatal presenting GSD

A

Von gierke (type 1) and pompe (type 2)

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

Type 1 GSD enzyme deficiency

A

Glucose 6 phosphatase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Type 2 GSD enzyme deficiency

A

Lysosomal alpha glucosidase

17
Q

Deficiencies that cause hereditary fructose intolerance

And lab findings

A

Fructokinase
Fructose 1-phosphate aldolase

Findings: low glucose because of blockage of glycogenolysis (F1P inhibits phosphorylase activity and inhibits gng)
Absence of enzyme F1P adolase
Abnormal LFTs
Reducing substances in urine

18
Q

Urea cycle defects presentation

A

Majority present after age 1 or 2 days
Poor oral intake
Vomiting
Tachypnea
Lethargy followed by hypotonia
Seizures
Signs of liver disease

19
Q

Lab findings of UCD

A

Severe hyperammonemia
Primary resp alkalosis (maybe from cerebral edema if hyoerammonemia)
Normal glucose

20
Q

UCD pathway

A

Page 102 of review book

21
Q

how to diagnosis UCD

A

SAA
UOA (orotic acid)
Fibroblast or hepatocyte enzyme activity

22
Q

Diagnosis for N acetylglutamate synthetase

A

Glutamine/alanine: high
Urine orotic acid: low
Citrulline: low
Arginine: low

23
Q

Diagnosis of Carbamyl phosphate synthetase

A

Glutamine/alanine: high
Urine orotic acid: low
Citrulline: low
Arginine: low

24
Q

Diagnosis of ornithine carbamyl transferase

A

Glutamine/alanine: high
Urine orotic acid: high
Citrulline: low
Arginine: low

25
Q

Diagnosis of argininosuccinic acid synthetase

A

Glutamine/alanine: high
Urine orotic acid: high
Citrulline: high
Arginine: low

26
Q

Diagnosis of arginosuccinic lyase deficiency

A

Glutamine/alanine: high
Urine orotic acid: high
Citrulline: high
Arginine: low

27
Q

Deficiency of arginase to argininemia diagnosis

A

Glutamine/alanine: high
Urine orotic acid: high
Citrulline: high
Arginine: high

28
Q

Treatment of UCD - hyperammonemia

A

Neurologic outcomes correlate with duration of hyperammonemia

Hydration
Remove nitrogen via medications (sodium benzoate and sodium phenylacetate) - renal function necessary because excreted in urine
Hemodialysis if ammonia >500
Eliminate protein and minimize catabolism
Provide IV glucose
Supplement with arginine

29
Q

Maple syrup urine disease deficient

A

Ketoacid dehydrogenases that require thiamine

30
Q

Maple syrup urine disease lab findings

A

Send urine ketones, SAA, UOA

Ketonuria
Hypoglycemia
Maple syrup urine odor
Metabolic acidosis

Urine dinitrophenylhydrazine test -> forms white precipitates

Definitive: ketoacid dehydrogenase assay of skin fibroblasts of WBCs

Prenatal dx: decreased keroacid dehydrogenase activity in cultured amniocytes or choriovillus cells

31
Q

Maple syrup urine disease s/s

A

Usually within first few days to weeks
Poor feeding
Vomiting
Lethargy
Tachypnea
Death if untreated
By 4 days, neurologic abnormalities: lethargy, irritability, alternating hypotonia and hyerptonia, dystonia, apnea, seizures, signs of cerebral edema

32
Q

MSUD neurologic outcome a/c

A

Correlate with plasma leucine concentrations

Neo Board Review (12 decks)

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