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Neo Boards GF > Metabolic/Thermal > Flashcards

Metabolic/Thermal Flashcards

1
Q

What are symptoms of galactokinase deficiency? Galactose-1-phosphate-uridyltransferase deficiency?

A

Galactokinase: only symptom is cataracts
Galactose-1-phosphate-uridyltransferase: galactosemia (AR, poor feeding, vomiting, cataracts, E. coli sepsis) Inc risk of premature ovarian failure, even if treated well. Cataracts usually regress once treated.

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2
Q

How to diagnose galactosemia?

A

Low glucose
Elevated urine reducing substances
Hyperchloremic metabolic acidosis (normal lactate and pyruvate)
Newborn screen

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3
Q

What are symptoms of galactokinase deficiency?

A

Cataracts, HIGH glucose
High urine reducing substances
High galactose

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4
Q

What is Pompe disease?

A

Glycogen storage disorder (type II)
Deficiency of lysosomal alpha glucosidase
Symmetric severe muscle weakness with big failing heart
Die within 1 year

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5
Q

What is von Gierke disease?

A

Type I glycogen storage disease
Glucose 6 phosphatase deficiency
Causes lactic acidosis (only type that does this) with low glucose. Inc risk of infections, hepatomegaly, bleeding disorder 2/2 liver failure
Prog: early death if no treatment

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6
Q

What is fructosemia?

A

Autosomal recessive
Fructose intolerance
Def of fructokinase or fructose 1-phosphate aldolase
Will present once having cows milk protein formula or when eating fruits/veggies
Sx: low glucose, high urine reducing substances

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7
Q

What is most common urea cycle defect?

A

Ornithine carbamyl transferase
X linked recessive
Elevated urine orotic acid
High ammonia

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8
Q

What are sx of argininosuccinic acid synthetase?

A

Urea cycle defect
Citrullinemia (very very high)
Brittle hair
Orotic aciduria, with high ammonia

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9
Q

What are sx of arginosuccinic lyase?

A

Autosomal recessive urea cycle defect

Bottle hair, elevated citrulline with orotic aciduria and only when severe has high ammonia

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10
Q

What are sx of arginase deficiency?

A

Argininemia (can’t make urea from arginine)
Autosomal recessive urea cycle defect
Progressive spastic diplegia
Orotic aciduria

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11
Q

What causes the respiratory alkalosis in urea cycle defects?

A

Hyperventilation 2/2 cerebral edema caused by hyperammonemia

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12
Q

What will be high in all urea cycle defects?

A

Glutamine and alanine

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13
Q

What determines neurologic outcomes in urea cycle defects?

A

Duration of hyperammonemia

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14
Q

What becomes an essential amino acid in most urea cycle disorders?

A

Arginine (except in arginase deficiency)

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15
Q

What is Maple Syrup Urine Disease?

A

Disorder of metabolism of branched chain amino acids (leucine, isoleucine, valine)
Autosomal recessive
Ketoacids in urine = maple syrup odor in urine

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16
Q

How to dx maple syrup urine disease

A

Elevated urine organic acids (ketoacids of leucine, isoleucine, valine)
Urine dinitrophenylhydrazine test - will have white precipitates if excess branched chain ketoacids

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17
Q

What determines cognitive outcomes in Maple Syrup urine disease?

A

Plasma leucine concentrations

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18
Q

What is PKU?

A

Phenylketonuria
Autosomal recessive
Can’t digest phenylalanine
Musty or mousy odor

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19
Q

What is most common cause of PKU?

A

Phenylalanine hydroxylase deficiency (can’t convert phenylalanine to tyrosine). Will have high phenylalanine and normal/low tyrosine

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20
Q

What is tyrosinemia?

A

Autosomal recessive
Deficiency of fumarylacetoacetate hydrolase-> toxins accumulate leading to severe liver disease
Can have albinism, FTT, hepatic cancer

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21
Q

How to diagnose tyrosinemia? How to treat?

A

High tyrosine levels, normal blood phenylalanine
Will have elevated blood and urine succinylacetone
Treat: avoid phenylalanine, tyrosine, methionine
Use nitisinone to prevent breakdown of phenylpyruvate (only treatment that helps liver)
May need liver transplant

22
Q

What is homocystinuria?

A

Autosomal recessive
Most common is deficiency of cystathionine synthetase. High homocysteine (blood and urine) and high methionine
Sx: downward dislocated lens, tall with fragile bones, stiff joints, dev delay.
*usually asymptomatic in neonatal period
Rx: pyridoxine/B6 (cofactor), decrease methionine, supp cysteine and folate

23
Q

What is nonketotic hyperglycinemia?

A

Autosomal recessive
Impacts fetus!
Sx quick, by 48 hrs. Severe lethargy, seizures. Agenesis of corpus callosum. Hiccups.
High glycine everywhere but no ketones
No treatment, very bad prognosis. Can try sodium benzoate and Valium to decrease seizures

24
Q

Histidinemia

A

Deficiency of histidase
Usually benign, some mental def, speech issues
High blood and urine histidine
Add ferric chloride to urine -> blue green (detects imidazole pyruvate acid)

25
Q

Cystinuria

A

Deficiency of cysteine (problem with amino acid transport across cell membrane)
High cysteine in urine, low in blood
Dx: nitroprusside urine test (detects ketoacids)

26
Q

Lysinuric protein intolerance

A

Abnormal amino acid transport across cell membrane -> deficiency of lysine, arginine, and ornithine
Sx: ok if breastfed until protein increases, then FTT, lethargy
High ammonia
Rx: supplement with citrulline

27
Q

Hartnup disease

A

Defect in amino acid transport leading to deficiency of tryptophan
Presents childhood/later in life
Pellagra-like skin, ataxia, dev delay/sz
Dx: hyperaminoaciduria with normal/low plasma amino acids

28
Q

Isovaleric acidemia

A

Abnl leucine metabolism (autosomal recessive)
Deficiency of isovaleryl-CoA dehydrogenase
sweaty feet odor
Poor feeding, vomiting. 50% neonatal mortality
Met acidosis with high ammonia, usually normal glucose
Rx: glycine (to increase nontoxic isovalerylglycine production), restrict protein

29
Q

3-methylcrotonyl glycinuria

A

Downstream one step from isovaleric acidemia, presents 6m-3y
odor of male cat urine
Met acidosis, high ammonia, low glucose
Dx: elevated 3-hydroxyisovaleric acid and 3-methylcrotonylglycine
Rx: restrict protein, give biotin (cofactor)

30
Q

Proprionic acidemia

A

Autosomal recessive
Deficiency of propionyl-CoA carboxylase
Dysmorphic (high forehead, broad nose), FTT, dev delay, big liver. Inc infections
Ketones AND high glycine, with high ammonia (can have low sugar)

31
Q

Methymalonic acidemia

A

Another Ketotic hyperglycinemia (like propionic acidemia).
Def of methylmalonyl-CoA isomerase
Same sx, ketones, high glycine, high ammonia
Rx: abx, vitamin B12 aka cobalamin (cofactor)

32
Q

Mevalonic aciduria

A

Defect of mevalonate kinase (cholesterol synthesis pathway)
Sx: FTT, dev delay, dysmorphic
Dx: no metabolic acidosis, sugar normal, inc creatine kinase, increased mevalonic acid. Test skin fibroblasts or WBCs for enzyme activity.
Rx: high cholesterol diet

33
Q

Glutaric aciduria type I

A

Autosomal recessive
Deficiency of glutaryl-CoA dehydrogenase.
Presents after 1 year with decompensation with infection
Big head, progressive neuro sx
Dx: low glucose, high ammonia, high urine glutaric acid levels. Frontotemporal atrophy of brain
Rx: carnitinen and riboflavin (B12) supp

34
Q

Hydroxymethylglutaryl-CoA lyase deficiency

A

Causes hypoketotic hypolgycemia
Last step in ketone synthesis from fatty acids
Seizures, hypotonia
Rx: frequent feeds, high carb diet

35
Q

What is most common fatty acid oxidation disorder?

A

Medium chain acyl-CoA dehydrogenase deficiency (MCAD)

Can’t oxidize FA completely -> hypoketotic hypoglycemia, severe acidosis

36
Q

Long chain 3-hydroxylacyl-CoA deficiency (LCHAD)

A

Deficiency of 3 hydroxylacyl coa dehydrogenase
Autosomal recessive
FTT, cardiomyopathy, higher mortality than MCAD
*heterozygous LCHAD pregnant women can get acute fatty liver disease
Sx: nonketotic hypoglycemia, high ammonia.
Rx: supp with MCT to bypass defect, carb rich frequent meals

37
Q

Carnitine deficiency

A

Lethargy, muscle weakness, cardiomyopathy
Important cofactor in transport of long chain FA across mitochondrial membrane
Leads to hypoketotic hypoglycemia

38
Q

Glutaric aciduria type II

A

Multiple acyl-CoA deficiency
Hypotonia, coma, dysmorphic (big forehead, flat nose)
Smells like sweaty feet
Causes met acidosis, low sugar, abnl urine organic acids

39
Q

What are signs of mucopolysaccharidosis?

A

Dystosis multiplex
Alder-Reilly bodies in WBCs
Urine mucopolysaccharides

40
Q

What kind of diseases have macular cherry red spots?

A

Lysosomal storage diseases affecting lipid storage and brain
Example: Niemann-Pick A

41
Q

How to differentiate Gaucher I, Neimann-Pick A, and Tay sachs?

A

All are lipid lysosomal storage disorders
Gaucher - HSM but normal eyes and brain
Neimann-Pick A - cherry red spots on retina (50%), HSM, and CNS disease
Tay-sachs - cherry red spots and cns disease, NO hsm.

42
Q

What are important mitochondrial disorders? Main sx?

A

Pyruvate dehydrogenase complex deficiency
Pyruvate carboxylase deficiency

Sx: severe lactic acidosis and neuro abnormalities (will have high pyruvate)

43
Q

Biotinidase deficiency

A

Same sx as biotin deficiency
Alopecia, rash, immune deficits.
Can lead to deafness, blindness, seizures if not dx and Rx.
Rx: biotin supplement

44
Q

Wilson disease

A

Abnl copper transport, copper deposits everywhere
Liver disease
CNS disease as adult
Cornea with Kayser-Fleischer rings
Dx: low ceruloplasmin with only slight decrease in copper
Rx: D-penicillamine to chelate copper, rarely liver transplant

45
Q

Menkes disease

A 
X linked recessive 
Defect in copper transport, poor absorption of copper
Brittle kinky steely hair
Dev delay, sz, progressive CNS sx
Big sagging lips, abnl eyebrow
Osteoporosis, skin/joint laxity
Tortuous arteries
Low ceruloplasmin AND low copper
Rx: daily copper injections
46
Q

Zellweger syndrome

A

Aka hepatocerebrorenal syndrome
Decreased peroxisomal function, limited oxidation of long chain FA
Dysmorphic (high forehead, wide fontanel, flat nose and orbital ridge)
FTT, seizures, cataracts, glaucoma
Dx: absent or decreased peroxisomes, high VLC FA, bile acid accumulation
Rx: None, die by 1 year

47
Q

Which disorders cause sweaty feet odor?

A

Isovaleric acidemia

Glutaric aciduria type II

48
Q

What causes urine to smell like male cat urine?

A

3-methylcrotonyl glycinuria

Multiple carboxylase deficiency

49
Q

What are results of ferric chloride urine test?

A

Blue green -> PKU
Green/gray -> MSUD
Green -> tyrosinemia

50
Q

How is neonatal heat loss different from adult?

A

4x greater

Neo Boards GF (14 decks)

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