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Peds Boards 2021 > Metabolic Disorders > Flashcards

Metabolic Disorders Flashcards

1
Q

What is the most likely diagnosis of infant with lethargy, tachypnea, tachycardia, normal body temp and blood pressure, and bittersweet aroma from ear and diaper in setting of high anion gap acidosis with ketosis?

A

Maple Syrup Urine disease

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2
Q

What is the most likely diagnosis for patient presenting with marfanoid appearance, dislocation of the lens in downward direction (subluxation), mild intellectual disability and aggressive behavior?

A

Homocystinuria

due to defect in cystathionine beta synthase

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3
Q

What is the treatment for Homocystunuria?

A

Pyridoxine

enhances defective enzyme activity

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4
Q

What is the most likely diagnosis for patient presenting with hypoglycemia after fasting/ stress, negative ketones, hepatosplenomegaly?

A

Medium chain acyl Co-A dehydrogenase (MCAD) deficiency

most common fatty acid oxidation disorder

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5
Q

How do you diagnosis MCAD (medium chain acyl Co-A dehydrogenase deficiency)?

A

plasma acylcarnitine profile

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6
Q

What is the most likely diagnosis for newborn developing lethargy, hypotonia, acidotic with positive ketones, and elevated ammonia?

A

Organic acidemia

Methymalnnic acidemia and propionic acidemia

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7
Q

What is the test of choice to detect organic acidemia?

A

urine organic acid levels

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8
Q

What is the most likely diagnosis of patient presenting with intellectual disabilities, dystonic movements, hypotonia, hyperreflexia, recurrent vomiting, and self-mutilation starting around 3-4 months?

A

Lesch-Nyhan syndrome

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9
Q

What is the genetic inheritance pattern for Lesch-Nyhan syndrome?

A

X-linked disorder

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10
Q

How do you test for Lesch-Nyhan syndrome?

A

elevated serum uric acid levels and defective/ deficient HGPRT (hypoxanthine guanine phosphoribosyltransferase)

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11
Q

What is the most likely diagnosis for infant with blonde hair and blue eyes, eczema, vomiting, seizures, failure to thrive, developmental delays and musty diaper smell in setting of cow’s milk formula?

A

PKU (phenylketonuria)

autosomal recessive

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12
Q

What is the defect in PKU (phenylketonuria)?

A

absence of phenylalanine hydroxylase (unable to metabolize phenylalannine to tyrosine)

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13
Q

What is the cause for the musty odor in PKU (phenylketonuria)?

A

build up of phenylpyruvate (phenyl ketone) from excessive levels of phenylalanine

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14
Q

What is the treatment for PKU phenylketonuria)?

A

Breastfeeding and phenylalanine free formula

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15
Q

What is the most likely diagnosis for infant with vomiting, lethargy, failure to thrive, cataracts, hyperbilirubinemia, recurrent hypoglycemia and metabolic acidosis with formula feeding?

A

Galactosemia

autosomal dominant

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16
Q

What is the deficiency that leads to galactosemia?

A

galactose 1-phosphate uridyltransferase

results in elevated galactose 1 phosphate

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17
Q

What pathogen is most likely to cause sepsis in infant with galactosemia?

A

E. coli

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18
Q

What is the most likely diagnosis for patient presenting with academic difficulty, impulsivity, behavioral outbursts, gait abnormalities, slurred speech and deterioration of fine motor skills in setting of hyperpigmentation, brain imaging shows periventricular demyelination of the posterior region of white matter?

A

Adrenoleukodystrophy

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19
Q

How do you diagnosis adrenoleukodystrophy?

A

accumulation of very long chain fatty acids (in CNS, PNS, and adrenals)

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20
Q

What is the inheritance pattern of Adrenoleukodystrophy?

A

X-linked recessive

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21
Q

What is the most likely diagnosis for newborn with hypotonia, poor feeding, hepatomegaly, cardiomegaly, and normal mental development with normal glucose level?

A 
Pompe Disease
(type 2 glycogen storage disease)
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22
Q

What is the most likely diagnosis for an infant presenting with severe rapid hypoglycemia, seizures, hepatomegaly and failure to thrive?

A

Von Gierke Disease

Type 1 glycogen storage disease

23
Q

What is deficient in Pompe Disease?

A

alpha-glucosidase (results in accumulation of glycogen in muscle, liver, hear, kidney, smooth muscle and nerves)

24
Q

What is deficient in Von Gierke Disease?

A

glucose 6 phosphatase (no conversion of glucose 6 phosphatase to glucose in liver)

25
Q

What is the most likely diagnosis for patient presenting with microcephaly, narrow bifrontal diameter, broad nasal tipe, hypertelorism, ptosis, cleft palate, micrognathia, low set ears, syndactyly, hypospadias, and ambiguous genitalia?

A

Smith-Lemli-Optiz syndrome

autosomal recessive

26
Q

What is deficient in Smith-Lemli Optiz syndrome?

A

7-dehydrocholesterol reductaste (decreases plasma cholesterol)

27
Q

What is the treatment for infants with Von Gierke Disease (Type 1 Glycogen Storage Disease)?

A

nocturnal infusion of glucose by NG feedings

when older, add raw cornstarch in water

28
Q

What is the most likely diagnosis for patient presenting with coarse facial features, wide nasal bridge, flattened midface, recurrent respiratory tract infections, hearing loss, hepatosplenomegaly, umbilical hernia, corneal clouding and cardiomegaly in setting of rapidly declining milestones at age 24- 30 months old?

A 
Hurler Syndrome
(MPS- mucopolysaccharidosis type 1)
29
Q

What is a common radiographic finding associated with Hurler syndrome?

A

dysostosis multiplex in the lower thoracic and upper lumbar vertebrae

30
Q

What is the most likely diagnosis for patient presenting with hepatic failure (bleeding, elevated transaminases, hepatomegaly), renal failure (fanconi syndrome, Rickets), without hypoglycemia, negative ketones and negative reducing substances?

A

Tyrosinemia type 1

hepatorenal tyrosinemia

31
Q

What is the treatment for Tyrosinemia type 1?

A

NTBC (2-nitro-4-trifluoro-methylbenzoyl)

32
Q

What is the diagnostic test for Tyrosinemia type 1?

A

urine succinylacetone

33
Q

What is the diagnostic test of choice for PKU?

A

plasma amino acids

34
Q

What is the most likely diagnosis for patient presenting with developmental delays, progressive loss of vision, progressive hypotonia, hearing loss, exaggerated startle reflex when 3-6 months old, and cherry red spot on fundoscopic exam?

A

Tay-Sachs disease

common in Eastern European Jews and French Canadian/ Cajun populations

35
Q

What is the diagnostic finding associated with Maple Syrup Urine Disease?

A

L-alloisoleucine accumulation

36
Q

What is the treatment for Maple Syrup urine Disease?

A

dietary restriction of branched-chain amino acids

leucine, isoleucine, and valine

37
Q

What is the most likely diagnosis for newborn presenting with vomiting, lethargy, poor feeding, and significant hyperammonemia with normal ABG initially (eventually develop respiratory alkalosis)?

A

Urea cycle defect

38
Q

What is the difference between urea cycle defects and organic acidemia (like methylmalonic acidemia/ propionic acidemia)?

A

urea cycle: significant ammonia, no metabolic acidosis

organic acidemia: moderate ammonia with metabolic acidosis

39
Q

What is the most likely diagnosis for patient aged 1-4 years old presenting with short stature, multiple skeletal deformities, joint stiffness, coarse facial features (prominent forehead with hypertelorism), hepatosplenomeglay and protruding abdomens with positive family history?

A

Hunter syndrome (mucopolysaccharidosis type 2)

40
Q

What is a potentially fatal complication associated with Hunter syndrome (mucopolysaccharidosis type 2)?

A

cardiac valvular leaflet dysfunction

results in sudden death

41
Q

What is the defect associated with Hunter syndrome (mucopolysaccharidosis type 2)?

A

iduronate-2 sulfatase

42
Q

What is the most likely diagnosis for infant presenting with intellectual disabilities/ developmental delays, poor growth episodic seizures (starting around 4 months old), sparse short hair that is light in color and easily breaks?

A

Menkes Disease (menkes kinky hair disease)

43
Q

What is the inheritance pattern of Menkes Disease?

A

X-linked recessive

44
Q

What is the diagnostic test of choice for Menkes Disease?

A

decreased serum copper (also usually low ceruloplasmin)

45
Q

What is the most likely diagnosis of patient with macrocephaly at birth, normal development until has febrile illness/ stressor and then develops hypotonia, dystonia, frontal and cortical atrophy on imaging, subdral hematoma and retinal hemorrhages?

A

Glutaric Acidemia Type 1

46
Q

What is deficient in Hurler syndrome?

A

Lysosomal enzyme

lead to accumulation of heparan sulfate, dermatan sulfate, keratan sulfate

47
Q

Which urea cycle defect disorder is associated with low urine orotic acid?

A

Carbamoyl phosphate synthetase (CPS) deficiency

48
Q

What urea cycle defect disorder is associated with high urine orotic acid?

A

Ornithine transcarbamylase (OTC) deficiency

49
Q

What metabolic disorder is associated with thromboembolic events?

A

Homocystinuria

50
Q

How do you differentiate glycogen storage diseases from fatty acid oxidation disease?

A

glycogen storage: excessive ketones

fatty acid: no/ few ketones

51
Q

What is the treatment for Medium chain acyl Co-A dehydrogenase (MCAD) deficiency?

A

frequent carbohydrate feedings and carnitine

carnitine is depleted

52
Q

What is the most likely diagnosis for patient presenting with hepatosplenomegaly, skeletal deformities (Erlenmeyer flask deformity), anemia, thrombocytopenia, and seizures?

A

Gaucher disease

lipid storage disease

53
Q

What is the diagnostic test for Gaucher disease?

A

glucocerebrosidase activity in peripheral leukocytes

Peds Boards 2021 (22 decks)

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