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Peds Boards > Inborn Errors Of Metabolism > Flashcards

Inborn Errors Of Metabolism Flashcards

1
Q

Metabolic acidosis + elevated NH3

A

Propionic acidemia
Methylmalonic acidemia
Fatty acid oxidation defects

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2
Q

Metabolic acidosis + normal NH3

A

MSUD

Some organic acidemias

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3
Q

Normal ABG + elevated NH3

A

Urea cycle defect

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4
Q

Normal ABG + normal NH3

A

Aminoacidopathy
Galactosemia
Non-ketotic hyperglycemia

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5
Q

Organic acidemias

A 
Elevated NH3
Anion gap acidosis
Introduction of protein (first 2 days)
Ketonuria
Hypoglycemia

Decreased appetite, delayed milestones
Falling down
No physical abnormality

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6
Q

Isovaleric acidemia

A 
Lethargy
Poor feeding
Seizure
Infection
Odor of sweaty feet

Tx: protein restriction

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7
Q

Propionic acidemia

A

Newborn period

Lethargy, poor feeding

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8
Q

Methylmalonic acidemia

A

Newborn period

Lethargy, poor feeding

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9
Q

Fatty acid oxidation defects

A

Autosomal recessive

MCAD, LCAD, VLCAD
Hypoglycemia
Hepatomegaly
Absence of reducing substances, ketones
Normal serum amino acids

Dx: plasma acylcarnitine profile

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10
Q

Urea Cycle Defects

A

Hyperammonemia
No acidosis

Symptom free -> hypotonia, coma

Tx: protein restriction, IV glucose

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11
Q

Galactosemia

A 
After first meal
Abdominal distension
Hypoglycemia
Non-glucose reducing substances in urine
Gm negative sepsis
Cataracts (reversible), retardation, liver disease

Dx: GALT in RBCs
Tx: galactose free diet

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12
Q

Fructose intolerance

A

Seizures after a meal

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13
Q

Hyperinsulinism

A

Hypoglycemia

Ht, wt, HC upper limit of normal

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14
Q

Refractory hypoglycemia

A

Diazoxide

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15
Q

Biotinidase deficiency

A

Lactic acidosis
Itchy rash
Alopecia
Coma, ataxia, neuro signs

Tx: biotin supplements

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16
Q

Maple Syrup Urine Disease

A

Onset in 1st week
Hypertonicity
Shallow breathing

Elevated AA:
valine, isoleucine, alloisoleucine, leucine

17
Q

Alcaptonuria

A

Homogentisic acid in urine -> dark diaper

Tx: low phenylalanine, tyrosine diet

18
Q

Homocystinuria

A

Dislocated lens
Skeletal abnormalities
Cognitive defects

Dx: homocysteine in urine
Tx: pridoxine; high cysteine, low methionine diet

19
Q

Phenylketonuria

A

Asymptomatic for few mos
Blond hair, blue eyes

Vomiting, irritability
Eczema
Mousy odor of urine

Microcephaly, low BW
Congenital heart disease
Mental retardation

Dx: after first feeding
Tx: continue diet, esp before pregnancy

20
Q

Mucopolysaccharidoses

A

Type I: Hurler

Type II: Hunter

Type III: Sanfilippo

  • autosomal recessive
  • increases haparan sulfate
  • hepatosplentomegaly, corneal clouding

Type IV: Morquio

  • skeletal involvement, corneal clouding
  • normal IQ
21
Q

Glycogen storage disease type 1

Von Gierke disease

A

Consanguinity
Fasting (infant sleeping through night)

Hepatomegaly
Cherubic facies
Hypoglycemia
Elevated TG, cholesterol
Elevated lactic acid, uric acid

Tx: cornstarch, no fasting

22
Q

Glycogen storage disease type 2

Pompe disease

A 
One month or younger
Hypotonia, FTT
Hepatomegaly
Macroglossia
Cardiomegaly

No hypoglycemia, acidosis

23
Q

Familial hypercholesterolemia

A

Autosomal dominant

Not associated with obesity

24
Q

Menkes syndrome

A

Autosomal recessive
Low serum Cu, ceruloplasmin
High tissue Cu level

25
Q

Wilson’s disease

A

Jaundice, hepatomegaly
Neurological deterioration
Kayser Fleischer rings, no visual defects

Dx: liver biopsy

26
Q

Gaucher disease

A

Decreased beta glucosidase activity
1st/2nd year, progressive
Hepatosplenomegaly, CNS deterioration

Short stature
Thrombocytopeia
Bone pain
Osteosclerosis, bone lesions

27
Q

Fabry disease

A 
X recessive
Absence of alpha galactosidase
Orange skin lesions (angiokeratomas)
Burning of palms, soles
Opacities of eye
Vascular - kidney, heart, brain
28
Q

Krabbe disease

A

Demyelination disorder
Progressive neuro deterioration
Death by 2 yo

29
Q

Tay Sachs disease

A

Autosomal recessive
Hexosaminidase A enzyme activity
Normal development until 9 mos
Progressive over 1st year, death by 4-5 yo

Exaggerated startle reflex
Cherry red spot on retina
Macrocephaly

30
Q

Niemann Pick disease

A

Cherry red spot on retina
CNS deterioration
Hepatosplenomegaly

31
Q

Homocystinuria

A 
Error in methionine metabolism
Thin, scoliosis
Posterior dislocated lens
Cognitive impairment
Risk for thrombi, emboli -> PE

Tx: pyridoxine

32
Q

Orithine transcarbamylase deficiency

A 
X linked
Urea cycle defect
Hyperammonemia, low BUN
Lethal at early age in males
Increased glutamine, urinary orotic acid
Decreased citrulline, argiine

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