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Laughing Your Way > Inborn Errors of Metabolism > Flashcards

Inborn Errors of Metabolism Flashcards

1
Q

Examples of inborn errors of metabolism with metabolic acidosis and elevated ammonia

A

Proprionic acidemia
Methylmalonic acidemia
Fatty acid oxidation

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2
Q

Examples of inborn errors of metabolism with metabolic acidosis and normal ammonia

A

MSUD
Some organic acidemias

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3
Q

Examples of inborn errors of metabolism with normal pH and elevated ammonia

A

Urea cycle defect
Transient hyperammonemia

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4
Q

Examples of inborn errors of metabolism with normal pH and normal ammonia

A

Aminoacidopathy
Galactosemia
Non-ketotic hyperglycemia

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5
Q

Typically present in first 2 days of life
Following intro of protein
“Drunk-like”
Elevated ammonia
HAGMA
Ketonuria

A

Organic acidemias

-Methylmalonic
-Proprionic
-Isovaleric

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6
Q

Management of organic acidemias

A

Hydration
Appropriate diet

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7
Q

First 2 years of life
Hypoglycemia (hypoketotic)
Hepatomegaly (elevated LFTs)
Seizure
Poor PO
Elevated ammonia

Treatment

A

Fatty acid oxidation defects
(Autosomal recessive)

-MCAD, LCAD, VLCAD
-Glutaric aciduria

Tx: Carnitine

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8
Q

Definitive diagnosis for fatty acid oxidation defect and management

A

Plasma acylcarnitine profile

Emergent IV 10% glucose and oral L-carnitine

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9
Q

Normal at birth
Poor feeding and FTT after intro to lactose
Hepatomegaly
Hypoglycemia
Lethargy/hypotonia
Positive reducing substances in urine
E. coli sepsis

A

Galactosemia

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10
Q

Definitive diagnosis of galactosemia and management

A

GALT in RBC
(Deficiency in galactose-1-phosphate uridyltransferase)

Galactose-free diet (soy formula)

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11
Q

Complications of galactosemia

A

Cataracts

Reversible with diet change

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12
Q

Afebrile
Seizures
Persistent hypoglycemia
Low BHB
Low free fatty acids
Large head and body

A

Hyperinsulinism

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13
Q

Hypoglycemia
Hepatomegaly
Doll-like or cherubic face
FTT
Lactic acidosis

A

Glycogen storage disease type 1
(Von Gierke Disease)

Deficiency of hepatic glucose-6-phosphatase

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14
Q

Floppy
FTT
Cardiomegaly
Hepatomegaly
Macroglossia
Respiratory failure

A

Glycogen storage disease type II
(Pompe disease)

Deficiency in lysosomal breakdown of glucose

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15
Q

Hyperammonemia
Acidosis
Ketosis

A

Organic aciduria

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16
Q

Hyperammonemia
No acidosis
No ketosis

A

Urea cycle defect

17
Q

Maple syrup urine disease is caused by the inability to break down these amino acids

Dietary treatment

A

Valine
Isoleucine
Alloisoleucine
Leucine

Branched amino acid restriction

18
Q

Motor dysfunction
Behaviors disturbances
Self-inflicted injuries
Urate:Cr ratio > 2 (diagnostic)
Elevated serum uric acid level

A

Lesch-Nyhan syndrome

Deficiency of the HGPTY enzyme

19
Q

Error in methionine metabolism
Posterior lens displacement
Possible cognitive deficits
Light skin, hair, eyes
Thromboembolic events

A

Homocystinuria

20
Q

Newborn after intro to protein formula
Lethargy
Coma
Spastic CP

A

Nonketotic hyperglycinemia

21
Q

Blond hair. Blue eyes
Musty or mousy urine odor

A

Phenylketonuria (PKU)

Plasma amino acid

22
Q

Presents before age 2
Facial coarsening
Hirsutism
HSM
Corneal clouding
Reduced alpha-L-iduronidase
Dystopia multiplex

A

Hurler Syndrome
(Mucopolysaccharide type 1)

23
Q

Coarse facial features
Organomegaly
NO corneal clouding
Join contractures
Pebbly skin
Deafness
Reduced iduronate sulfatase enzyme

A

Hunter syndrome
(Mucopolysaccharide type II)

X-linked recessive

24
Q

HSM
Bone pain (osteosclerosis, lytic lesions)
Easy bruisability (thrombocytopenia)
Short stature
Erlenmeyer flask deformity

A

Gaucher disease

25
Q

Exaggerate startle reflex
Cherry red spot on retina
Macrocephaly
Blindness. Seizures.
Hexosaminidase A enzyme deficiency

A

Tay Sachs disease

Autosomal recessive

26
Q

Cherry red spot on retina
CNS deterioration
HSM

A

Niemann-Pick disease

27
Q

Encephalopathy
Lactic acidosis
Stroke

A

Mitochondrial disorder
(MELAS)

28
Q

Complication of Hunter syndrome

A

Cardiac valvular leaflet dysfunction
Death

29
Q

Hepatic/renal dysfunction
FTT
RTA/Fanconi syndrome
Rickets

A

Hepatorenal tyrosinemia (Type1)

Laughing Your Way (34 decks)

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