Biochem Deficiencies

Front 1

Glucose -6-phosphate dehydrogenase deficiency

Back 1

Decreased NADPH leading to decrease in glutathione needed to detoxify free radicals and peroxidases. Histo: heinz bodies and bite cells

Front 2

Classic galactosemia

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Absence of galactose-1-phosphate uridyltransferase leading to accumulation of toxic substances including galactitol; failure to thrive, jaundice, hepatomegaly, infantile cataracts, intellectual disability

Front 3

Methionine, Valine, Histidine

Back 3

Essential amino acids that are glucogenic

Front 4

Isoleucine, phenylalanine, threonine, tryptophan

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Essential amino acids that are glucogenic and ketogenic

Front 5

Leucine, Lysine

Back 5

Essential amino acids that are ketogenic

Front 6

Hyperammonemia

Back 6

Results in excess NH4+ which depletes alpha ketoglutarate and inhibits TCA cycle

Front 7

Phenylbutyrate, Benzoate

Back 7

Decreases ammonia levels

Front 8

N-acetylglutamate deficiency

Back 8

Will lead to hyperammonemia as it is a required cofactor for carbamoyl phosphate synthetase I

Front 9

Von Gierke Disease

Back 9

Glycogen storage disease involving glucose 6 phosphatase leading to severe fasting hypoglycemia, increased glycogen in liver and blood lactate levels, with hepatomegaly

Front 10

Pompe Disease

Back 10

Glycogen SD Type 2 involving lysosomal alpha 1,4 glucosidase leading to cardiomyopathy and systemic findings especially of liver and muscle

Front 11

Maple Syrup Urine Disease

Back 11

Due to blocked degradation of branched amino acids (isoleucine, valine, leucine) leading to severe CNS deficits, intellectual disability and death

Front 12

Phenylketonuria

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Due to decreased phenylalanine hydroxylase or decreased tetrahydroxybiotin leading to intellectual diasability, growth retardation, seizures, fair skin, eczema, musty body odor

Front 13

Cori Disease

Back 13

Glycogen SD III involving alpha 1,6 glucosidase which is a milder form of type I disease with normal blood lactate levels and preserved gluconeogenesis

Front 14

Mc Ardle Disease

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Glycogen SD V involving skeletal musclr glycogen phosphorylase, leading to increased glycogen in muscle that cannot be broken down, resulting in painful muscle cramps, myoglobinuria with strenuous exercise and arrhythmia from electrolyte abnormalities

Front 15

Gaucher Disease

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Most common lysosomal storage disease; Glucocerebrosidase deficiency leading to hepatosplenomegaly, pancytopenia, aseptic femoral necrosis, bone crises

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Niemann-Pick Disease

Back 16

Sphingomyelinase deficiency resulting in progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula and foam cells

Front 17

Tay Sachs Disease

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Hexosaminidase A deficiency resulting in progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin but no hepatosplenomegaly

Front 18

Krabbe Disease

Back 18

Peripheral neuropathy, developmental delay, optic atrophy, globoid cells; galactocerebrosidase deficiency

Front 19

Metachromic leukodystrophy

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Arylsulfatase A deficiency leading to central and peripheral demyelination with ataxia and dementia

Front 20

Hurler syndrome

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Alpha L iduronidase deficiency leading to developmental delay, gargoylism, airway obstruction, corneal clouding and hepatosplenomegaly

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Hunter Syndrome

Back 21

Iduronate sulfatase deficiency resulting in mild hurler + aggressive behavior but with no corneal clouding

Front 22

Carnitine deficiency

Back 22

Inability to transport LCFAs into mitochondria resulting in toxic accumulation manifesting as weakness, hypotonia and hypoketotic hypoglycemia