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Pediatrics > Metabolic Disorders > Flashcards

Metabolic Disorders Flashcards

1
Q

12 to 24 hours of age, the mother noted a sweet, caramel-like odor. 2 days of age, the newborn was feeding poorly, becoming irritable, and then developed drowsiness that progressed to lethargy, intermittent apnea, opisthotonus, and hypertonia. “bicycling” movements of the legs.

A

maple syrup urine disease (MSUD)

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2
Q

Things that build up in blood with Maple Syrup urine disease

A

amino acid levels

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3
Q

Inheritance pattern of MSUD

A

autosomal recessive

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4
Q

Clinical features of Menkes disease

A

a period of normal development in early infancy, followed by developmental regression, coarse, kinky hair (pili torti), and tortuosity of the carotid arteries and vasculature of the brain.

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5
Q

Things to test to diagnose Menkes Disease

A

Ceruloplasmin levels, in conjunction with copper levels

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6
Q

Dx for Mucopolysaccharidoses

A

lysosomal enzyme screening and urine glycosaminoglycans

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7
Q

Clinical features of mucopolysaccharidoses

A

slowly progressive coarsening of facial features, joint stiffness, and developmental regression.

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8
Q

Diagnostic lab test for peroxisomal disorders,

A

Very-long-chain fatty acids

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9
Q

Clinical features of peroxisomal disorders

A

slow progression of hypotonia, poor feeding, dysmorphic facies, seizures, hepatic dysfunction, retinal dystrophy, and sensorineural hearing loss

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10
Q

Lab abnormalities in medium-chain-acyl-coenzyme A dehydrogenase (MCAD) deficiency

A

Elevations in C6, C8, and C10 acylcarnitines

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11
Q

Things included in newborn screen (just major ones among the full 30)

A

PKU, galactosemia, organic acidemias, fatty acid oxidation disorders, congenital adrenal hyperplasia, congenital hypothyroidism, and sickle cell disease

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12
Q

Presentation and timing of medium-chain-acyl coenzyme A dehydrogenase (MCAD) deficiency

A

3 and 24 months of age with an episode of hypoketotic hypoglycemia, vomiting, and lethargy triggered by a minor illness

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13
Q

Clinical presentation of Propionic acidemia

A

developmental regression, frequent emesis, protein intolerance, failure to thrive, low tone, dystonia, and cardiomyopathy.

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14
Q

Lab findings in proprionic acidemia

A

elevated C3 (propionylcarnitine) AND elevated urine organic acids (3-hydroxypropionate level and the presence of methylcitrate, tiglylglycine, and priopionylglycine)

Other miscellaneous: metabolic acidosis with a high anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenias

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15
Q

Baby has virilization, salt-wasting crisis. You suspect ____ and you test for _____

A

Congenital adrenal hyperplasia (CAH)
17-OH progesterone level

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16
Q

child presenting with developmental regression, ECZEMA, hypotonia, ataxia, vision problems, hearing loss, ALOPECIA, and seizures. What does he/she have and what do you test for.

A

Biotinidase deficiency
biotinidase level

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17
Q

Basic metabolic workup include (10 things)

A
  1. serum analysis for lactate,
  2. pyruvate,
  3. ammonia,
  4. blood glucose,
  5. complete blood count,
  6. electrolytes,
  7. carnitine profile,
  8. acylcarnitine panel, and
  9. amino acids, as well as
  10. UA for organic acids and ketones
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18
Q

What is the issue in Phenylketonuria (PKU)

A

excess serum phenylalanine
amino acid metabolism

Impaired myelination –> profound neurologic impairment

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19
Q

Dietary change in children with PKU

A

natural proteins supplemented with phenylalanine-free amino acid mixtures

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20
Q

coarse facial features, macrocephaly, contractures of the hands, a gibbus deformity, and corneal clouding. Normal features at birth. Multiple episodes of otitis media. Development delay. Short stature. Dx?

A

Hurler syndrome

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21
Q

Deficiency of the enzyme α-L-iduronidase leads to storage of 2 glycosaminoglycans (GAGs), dermatan and heparan sulfate, in various tissues and organs

A

Hurler

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22
Q

Tx of Hurler and when they should it be given by

A

HSCT (does not help with cardiorespiratory issues l
By 30 mo

In MPS1, enzyme replacement therapy
Does not cross BBB so does not help with cognitive decline

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23
Q

x-linked lysosomal storage disorder characterized by periodic pain crises, angiokeratomas, corneal and lenticular opacities, stroke, left ventricular hypertrophy, sweating abnormalities, and renal disorder progressing to end-stage renal disease

A

Fabry

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24
Q

Hunter syndrome pathophys

A

accumulation of the GAGs dermatan and heparan sulfate due to a deficiency of the enzyme iduronate sulfatase

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25
Q

Hunter vs. Hurler

A

Hunter has better cognitive outcome and the absence of corneal clouding.

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26
Q

lysosomal storage disorder caused by a deficiency of the enzyme acid α-glucosidase

A

Pompe

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27
Q

proximal muscle weakness with respiratory insufficiency; there is no cardiac involvement

A

Pompe

In pompe, the “pump” is fine

28
Q

Hypoketotic hypoglycemia with no urine ketones. Dx? What is the ammonia level?

A

Fatty acid oxidation problem
Normal ammonia

29
Q

Which two inborn errors metabolism with hypoglycemia is hyperammonimea seen?

A

Urea cycle defects
Organic acidosis (maple syrup)

30
Q

Types of urea cycle defects

A

ornithine transcarbamylase deficiency
citrullinemia
argininosuccinic aciduria

31
Q

Types of organic acidosis

A

isovaleric aciduria
methylmalonic aciduria
propionic aciduria
maple syrup urine disease. The

32
Q

most common disorder of muscle glycogenosis with primary clinical feature of exercise intolerance, presenting with fatigue, pain, and cramps in the exercising muscle.

A

Glycogen storage disease V (McArdle)

33
Q

Glycogen storage disease type 2 is also known as

A

Pompe disease

34
Q

Exercise intolerance with second wind phenomenon. Dx?

A

McArdle
Glycogen storage disorder type V

35
Q

Pancytopenia
Erlenmeyer flask deformity of bones (femur) with bone pain
Hepatosplenomegaly. Dx?

A

Gaucher

36
Q

Pathophys of Gaucher disease

A

disorder of sphingolipid metabolism

37
Q

calcification of the mitral and aortic valves, mild splenomegaly, corneal opacities, and oculomotor apraxia.

A

Cardiovascular Gaucher

38
Q

Binge marrow biopsy findings of Gaucher

A

Large vacuolated macrophages

39
Q

obtundation after prolonged overnight fasting and hypoglycemia with lactic acidosis and ketosis, with hepatosplenomegaly, found in infancy. Dx?

A

Glycogen storage disorder type 1a (von Gierke disease)

40
Q

Deficiency/defect in glucose-6-phosphatase. Dx?

A

Glycogen storage disorder type 1A

41
Q

ragged red fibers (also other non-specifoc findings like seizure, hypotonia, cardiac conduction abnormalities)

A

Mitochondrial disorder

42
Q

Newborn screen with positive trypsinogen (concerning for CF). Next steps?

A

Schedule for diagnostic testing

elevated trypsinogen could show pancreatic insufficiency in newborns with CF

43
Q

Target glucose for neonate

A

> 45 (AAP)

Pediatric endocrine society:
>50 in first 48h, then >60 after

44
Q

If neonate has glucose of <35, what is the next step?

A

Feed and remeasure 1h after feed. If still <35, then IV glucose

45
Q

When does physiologic hypoglycemia occur

A

First 4 hours of life

46
Q

Difference between urea cycle defect and organic acid defect

A

Urea cycle defect: respiratory alkalosis
Organic acid defect: metabolic acidosis, BUN wnl

46
Q

Difference between urea cycle defect and organic acid defect

A

Urea cycle defect: respiratory alkalosis, normal AG
Organic acid defect: metabolic acidosis, BUN wnl

47
Q

Tx of urea cycle defect

A

low-protein diet
essential amino acid and arginine supplement

Nitrogen scavenger meds: sodium phenylacetate and sodium phenylbutyrate

48
Q

Boy with dystonia, choreoathetosis, spasticity, low tone and global developmental delay wince 3 mo. Dx with CP at 2 yo. Frequent self-injurious behaviors. Nondysmorphic. Family history + for similar. What’s the diagnosis and what do you send off?

A

Lesch-Nyhan
Commonly mistaken as CP
Urinary urate-to-creatinine ratio (>2.0 in LN)

49
Q

Lesch-Nyhan pathophys

A

uric acid overproduction leading to deposition of uric acid crystals in bladder, kidneys, ureters over time

50
Q

Orange crystals in diaper, dx?

A

uric acid overproduction seen in Lesch-Nyhan

51
Q

Most common cause of inherited intellectual disability

A

Fragile X-syndrome

52
Q

extremely elevated ammonia, poor feeding, hypotonia, cerebral edema, respiratory alkalosis. dx?

A

urea cycle disorder

53
Q

difference between ornithine transcarbamylase deficiency and carbamoyl phosphate synthetase I (CPS I) deficiency

A

in OTC deficiency, HIGH urine ortic acid

54
Q

mode of inheritance of OTC deficiency

A

X-linked recessive

55
Q

Tx of OTC crisis (severe hyperammonemia)

A

dialysis

56
Q

Tx of OTC crisis (severe hyperammonemia)

A

dialysis

57
Q

Tx of maple syrup urine disease

A

Dietary leucine restriction
Supplementation with isoleucine and valine

58
Q

musty body odor, dx?

A

Phenylketonuria

59
Q

Hypotonia, poor feeding, dysmorphic facies, LIVER CYSTS with liver dysfunction, bony stippling in patella or long bones

A

Zellweger (peroxisomal biogenesis disorder, elevated very-long fatty acid in serum)

60
Q

What does MELAS stand for

A

mitochondrial
Encephalomyopathy with
Lactic
Acidosis and
Stroke-like episodes

61
Q

DOwnward dislocation of the lens

A

homocysteinuria

61
Q

DOwnward dislocation of the lens

A

homocysteinuria

62
Q

Elevated C14:1 on newborn screen

A

very long-chain acyl-coA dehydrogenase (VLCAD) deficiency

63
Q

cardiomyopathy with pericardial effusion (or hyperkeratotic), hepatomegaly, hypotonia, elevated AST/ALT, increased dicarboxylic acids. serum elevated dicarboxylic acids. Dx?

A

VLCAD, very long-chain acyl-coA dehydrogenase deficiency

64
Q

Barth sd

A

mitochondrial dz. TAZ mutation
cardiomyopathy, muscular weakness
Neutropenia ** (unlike VLCAD)
Facial dysmorphology
elevated urine 3-methylglutacomic acid, 3-methylglutaric acid, 2-ethylhydracylic acid

64
Q

Barth sd

A

mitochondrial dz. TAZ mutation
cardiomyopathy, muscular weakness
Neutropenia ** (unlike VLCAD)
Facial dysmorphology
elevated urine 3-methylglutacomic acid, 3-methylglutaric acid, 2-ethylhydracylic acid

Pediatrics (26 decks)

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