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Critical Care I > metabolic > Flashcards

metabolic Flashcards

1
Q

if you have low blood glucose and hepatomegaly, what type of metabolic disorder should you be thinking of

A

Glycogen storage disease

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2
Q

what are the 4 types of glycogen storage disease

A

1) Affect liver and influence blood sugar (I VI, VIII)
2) involve muscles and affect ability to do anaerobic work (V, VIII)
3) Affect liver and muscles and influence B.G. and muscle metabolism (III)
4) Affect various tissues but have no direct effect on blood glucose or on the ability to do anaerobic work (II and IV)

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3
Q

How do you diagnose type I or type III Glycogen storage disease

A

Remember Type I - effects liver and influences blood sugar

Type III - affects liver and muscles and influences B.G and muscle metabolism

increased Serum uric acid
increased Serum lactate
increased Serum triglycerides

confirmed by DNA testing

if inconclusive - enzyme measurements in tissue from affected organ to confirm dx

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4
Q

Treatment of type I or type III Glycogen storage disease

A

maintain Blood glucose or supply alternate energy sources to the muscle

In type I (glucose-6-phosphatase deficiency) usually requires nocturnal intragastric feedings of glucose during the first 1-2 yrs of life then usually snacks and uncooked cornstarch may be satisfactory.

There is no specific treatment for the diseases of muscle that impair skeletal muscle ischemic exercise

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5
Q

Hepatic tumors (sometimes malignant) are a threat in adolescence and adult life for this glycogen storage disease

A

Type I and III

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6
Q

treatment of Type II Glycogen storage disease (Pompe disease)

A

Enzyme replacement early in life is effective - This disease also includes cardiac and skeletal muscle

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7
Q

deficiency of galactose-1-phosphate uridyltransferase

A

Galactosemia

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8
Q

what type of genetic disease is Galactosemia

A

Autosomal recessive

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9
Q

symptoms of Galactosemia

A

most striking in the neonate when fed milk, exhibits evidence of
Liver failure - hyperbilirubinemia, coag disorders, hypoglycemia

renal tubular function - acidosis, glycosuria, aminoaciduria

cateracts

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10
Q

Galactosemia is on the neonatal newborn screen so why is it still a problem

A

affected infants may die in the first week of life so you may not get the results fast enough

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11
Q

Affected infants with Galactosemia are at increased risk for

A

severe neonatal E.Coli sepsis

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12
Q

Impact of Galactosemia on infants, first few years of life, older children and girls

A

infants may die the first week of life

major effects on liver and kidney function and development of cataracts for first few years of life

older children may have learning disorders despite dietary compliance

Girls may develop premature ovarian failure despite treatment

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13
Q

Newborn screen

confirmed by lab manifestations

when galactose is ingested as lactose, levels of plasma glucose and erythrocyte galactose-1-phosphate are elevated

frequently hypoglycemic and have albuminuria

Galactose frequently present in urine

The diagnosis is made by showing extreme reduction in erythrocyte galactose-1-phosphate uridyltranferase activity

A

Diagnosis galactosemia

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14
Q

Treatment for galactosemia

A

elimination of dietary galactose results in rapid correction of abnormalities, but infants who are extremely ill before treatment may die before therapy is effective

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15
Q

most striking in the neonate when fed milk, exhibits evidence of
Liver failure - hyperbilirubinemia, coag disorders, hypoglycemia

renal tubular function - acidosis, glycosuria, aminoaciduria

cateracts

A

Galactosemia

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16
Q

symptoms of Galactokinase deficiency

what is the problem

A

cataract formation - if they are homozygous they usually develop cataracts after the neonatal period. If they are heterozygous, they are at risk as adults

ICP (rare)

problem is accumulation of galactose in body

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17
Q

symptoms of Hereditary fructose intolerance

what is the deficiency

what is it similar to

TX?

A 
emesis
hypoglycemia
severe liver disease
severe kidney disease
fructosuria

fructose-1-phosphate aldolase

similar to Galactosemia

eliminate fructose and sucrose from diet prevents clinical disease

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18
Q

what grouping do these disorders fall under?

Glycogen storage diseases
Galactosemia
Galactokinase deficiency
Hereditary fructose intolerance

A

Carbohydrate Disorders

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19
Q

What types of glycogen storage diseases Affect liver and influence blood sugar

A

Types I VI, VIII

20
Q

What types of glycogen storage diseases involve muscles and affect ability to do anaerobic work

A

Types V, VIII

21
Q

What types of glycogen storage diseases Affect liver and muscles and influence B.G. and muscle metabolism

A

Type III

22
Q

What types of glycogen storage diseases Affect various tissues but have no direct effect on blood glucose or on the ability to do anaerobic work

A

Type II and IV

23
Q

fructose-1-phosphate aldolase deficiency

A

Hereditary fructose intolerance

24
Q

This disorder is a result of a defect in the hydroxylation of phenylalanine to form tyrosine

This is a autosomal recessive disease

A

Phenylketonuria (PKU)

25
Q

effects of Phenylketonuria (PKU) if not treated after being detected on NB screen and confirmed

A

primarily affects the brain -

if untreated, severe intellectual disability (IQ 30) develops in the first year of life

26
Q

Dx Phenylketonuria (PKU)

A

quantitative plasma amino acid analysis

A plasma phenylalanine value of greater than 360 uM (6mg/dL) is consistent with the diagnosis of one of the hyperphenylalaninemias

> 600 uM is classic PKU

Milder forms lie between 360-600

A significant number of premature infants and a few full term infants have transient elevations in phenylalanine

27
Q

If diagnose with Phenylketonuria (PKU), what should they also be tested for

A

to see if they have a defect in the synthesis or metabolism of tetrahydrobiopterin

28
Q

TX for Phenylketonuria (PKU)

A

designed to maintain plasma phenylalanine values in therapeutic range of 120-360 mM using a diet specifically restricted in phenylalanine but otherwise nutritionally complete

outcome is excellent who are treated within the first 10 days of life

29
Q

long term need to know for PKU female patients

A

planning to get pregnant will require rigorous management prior to conception and throughout pregnancy to prevent fetal brain damage, congenital heart disease and microcephaly

30
Q

fumarylacetoacetate hydrolase deficiency

A

Tyrosinemia Type I

31
Q

symptoms of Tyrosinemia Type I

A 
severe liver disease associated with
-bleeding disorder
-hypoglycemia
-hypoalbuminemia
-elevated transaminases
Defects in renal tubular function

Hepatocellular carcinoma may eventually occur

32
Q 
severe liver disease associated with
-bleeding disorder
-hypoglycemia
-hypoalbuminemia
-elevated transaminases
Defects in renal tubular function

Hepatocellular carcinoma may eventually occur

A

symptoms of Tyrosinemia Type I

33
Q

Dx of Tyrosinemia Type I

A

On newborn screen

increased concentration of succinylacetone

DNA testing available

34
Q

TX of Tyrosinemia Type I

A

medication:
Nitisinone (NTBC)

effectively eliminates the production of toxic succinylacetone

Low phenylalanine, low tyrosine diet may also play a role

35
Q

symptoms of Tyrosinemia Type II and Type III

treatment

A

milder form that does not produce the succinylacetone

Hyperkeratosis of palms and soles
keratitis - produces visual disturbances
mild cognitive impairment from significant elevation of tyrosine levels

phenylalanine and tyrosine restricted diet

36
Q

deficiency of cystathionine B synthase

A

Homocystinuria

37
Q

symptoms of Homocystinuria

A 
syndrome that includes 
dislocated ocular lenses
long, slender extremities
malar flushing
livedo reticularis
Arachnodactyly
scoliosis
pectus excavatum or carinatum
genu valgum
Intellectual disability
psychiatric illness

major arterial or venus thromboses are a constant threat

38
Q

what is a constant threat for kids with Homocystinuria

A

major arterial or venus thromboses are a constant threat

39
Q

Homocystinuria dx confirmation after newborn screen

A

demonstration of elevated total homocysteine in the blood

Plasma amino acid profile reveals hypermethioninemia

40
Q

treatment of Homocystinuria

A

There are two forms

for the first form
large doses of pyridoxine (100-500mg/day)
folate supplementation

2nd form
Medication 
betaine (trimethylglycine)
B12 supplement
folate supplement
41
Q

autosomal recessive disease
deficiency of the decarboxylase that initiates the degradation of the ketoacid analogs of the 3 branched chain amino acids - leucine, isoleucine and valine

A

Maple Syrup Urine Disease (MSUD)

also known as branched chain ketoaciduria

42
Q

clinical manifestations of Maple Syrup Urine Disease (MSUD)

A

occurs 1-4 weeks after birth
poor feeding
vomiting
tachypnea

hallmark is profound depression of the central nervous system, associated with alternating hypotonia and hypertonia (extensor spasms)
opisthotonos
seizures

urine may have the odor of maple syrup

labs
hypoglycemia
metabolic acidosis

43
Q

what metabolic disorder should be strongly suspected in a child with positive urine ketones on a dipstick with no or low B-hydroxybutyrate

A

Maple syrup urine disease (MSUD)

44
Q

dx Maple Syrup Urine Disease (MSUD)

A

showing large increases in plasma leucine with less increases in isoleucine

45
Q

tx Maple Syrup Urine Disease (MSUD)

A

adequate calories and protein with restriction of leucine - critical for acute and chronic mgmt

ordinary catabolic stress like moderate infection or labor and delivery in a pregnant mom with MSUD can precipitate clinical crisis

Liver transplantation effectively treats MSUD

46
Q

most feared complication of Maple Syrup Urine Disease (MSUD)

A

metabolic decompensation leading to brain edema

47
Q 
what type of metabolic disorders are these:
PKU
Maple Syrup Urine Disease (MSUD) 
Tyrosinemias
homocystinuria
A

Disorders of amino acid metabolism

Critical Care I (27 decks)

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