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Peds Boards > Metabolic Diseases > Flashcards

Metabolic Diseases Flashcards

0
Q
  • infant with lethargy and poor feeding, seizures, freq infx
  • *odor of sweaty feet
  • Tx is protein restriction
A

Isovaleric acidemia

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1
Q
  • incr ammonia
  • ketonuria
  • anion gap acidosis
  • present in first 2d of life after protein is introduced
  • Tx with hydration
  • Dx: urine organic acids
  • may have decr plts and WBC
A

Organic academics

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2
Q
  • autosomal recessive
  • hypoglycemia, hepatomegaly
  • no reducing substances, no ketones, nl amino acids
  • presents during periods of fasting
  • Dx with acylcarnitine profile
A

Defects in FA metabolism

MCAD, LCAD, VLCAD

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3
Q
  • incr ammonia, no acidosis, no ketones
  • hypotonia, coma, encephalopathy, resp alkalosis, lactic acidosis
  • Tx: decr protein intake, incr glucose intake
A

Urea cycle defects

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4
Q
  • infant with poor feeding, FTT, abdominal distension, hypoglycemia, gram negative sepsis, positive urine reducing substances
  • deficiency of GALT
  • Dx: measuring GALT in RBCs
  • Tx: galactose free diet
  • may result in cataracts, MR, and liver disease
A

Galactosemia

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5
Q
  • seizures just after a meal
  • stays away from sweets
  • Tx: avoidance of fructose
A

Fructose intolerance

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6
Q
  • decr glucose, acidosis, incr tone, HSM, sz, tachypnea, lethargy
  • glycogen storage dz
  • urine smells
  • onset during first week of life
  • Elevated: Valine, Isoleucine, Alloisoleucine, Leusine
A

Maple syrup urine disease

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7
Q
  • macrosomia
  • microcephaly
  • macroglossia
  • visceromegaly
  • omphalocele
  • hypoglycemia
A

Beckwith-Wiedeman Syndrome

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8
Q

-infant with hypoglycemia and ketonuria

A

Adrenal insufficiency

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9
Q
  • infant with hypoglycemia
  • vomiting
  • FTT
  • hepatomegaly
    • reducing substances
A

Galactosemia

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10
Q
  • lactic acidosis
  • rash
  • alopecia
  • neuro Sx: ataxia –> coma
A

Biotinidase deficiency

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11
Q
  • dark diaper (urine homogentistic acid)

- Tx: diet low in phenylalanine and tyrosine

A

Alcaptonuria

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12
Q
  • dislocated lens, skeletal abnl, cognitive defects
  • Test: urine
  • Tx: pyridoxine or diet high in cysteine and low in methionine
A

Homocysteinuria

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13
Q
  • asymptomatic x few months
  • presents with vomiting, irritability, eczema, musty urine odor
  • results in microcephaly, CHD, low birthweight, MR
  • Tx: low phenylalanine formula
A

PKU

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14
Q
  • coarse facies
  • corneal clouding
  • Autosomal recessive
A

Hurler’s Syndrome

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15
Q
  • coarse facies

- X-linked MPS

A

Hunter’s Syndrome

16
Q
  • autosomal recessive
  • manifests during 1st year of life
  • urine with incr heparin sulfate
  • HSM
A

San Filippo Syndrome

17
Q
  • skeletal involvement
  • corneal clouding
  • normal intelligence
A

Morquio Syndrome

18
Q
  • FHx
  • recurrent infx
  • developmental delay
  • FTT
A

Purine/Pyrimidine Dz

ADA Deficiency
Lesch-Nyhan Syndrome

19
Q
  • hypoglycemia and distended abdomen
  • doll like or cherubic face
  • consanguinity
  • poor growth, sz, incr lipids
  • Labs: incr lactic acid and uric acid
  • Tx: frequent snacks and meals, cornstarch after age 2
A

VonGierke Dz (GSD Type 1)

20
Q

-difficult to manage seizures
-peroxisomal dz
EEG burst suppression
-uncontrolled hiccups
Tx: ativan, dextromethorphan, sodium benzoate

A

Non-ketotic hyperglycinemia

21
Q
  • deficiency in lysosomal breakdown of glycogen
  • 1 mo or younger- nl at birth
  • floppy, FTT, hepatomegaly, macroglossia, cardiomegaly, hard muscles
  • death from respiratory failure
A

Pompe Disease (GSD II)

22
Q
  • autosomal dominant (50%)
  • deficiency fo LDL receptors
  • Xanthomas after age 10
  • NOT associated with obesity
A

Familial Hypercholesterolemia

23
Q
  • skin nodules and painful joints
  • first week of life
  • cherry red spot in macula
A

Farber’s Disease

24
Q
  • defective lipoprotein mechanism
  • triglyceride and cholesterol esters in body tissues
  • FTT, HSM, calcified adrenal gland **
A

Wolman Disease

25
Q
  • low serum copper
  • low serum ceruloplasmin
  • high tissue copper
  • twisted hairs
  • recessive
A

Menkes Kinky Hair Disease

26
Q

-jaundice, hepatomegaly, and neurologic deterioration
-deposition of copper in liver and brain
_KF rings
-Dx: liver BX
-low ceruloplasmin

A

Wilson’s Disease

27
Q
  • organomegaly, bone pain, bruising, short stature
  • thrombocytopenia, osteosclerosis, lytic lesions
  • decr B glucosidase activity
A

Gaucher Disease

28
Q

-deficiency in enzyme BH4 (tetrahydrobioptin)

A

PKU

29
Q
  • error in methionine metabolism
  • thin, scoliosis, posteriorly dislocated lens, cognitive impairment
  • at risk for pulmonary embolus
  • responds to pyridoxine Tx
A

Homocystinuria

Peds Boards (23 decks)

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