Defiencies

Question 1

Pyruvate Dehydrogenase Complex Defiency

Answer 1

Excess pyruvate (shunted to lactate and alanine). Sxn: Neurologic defects, lactic acidosis, increased serum alanine. Tx: Increase intake of ketogenic nutrients (high fat content or increased lysine and leucine

Question 2

NADPH Oxidase Defiency

Answer 2

Chronic Granulomatous Disease

Question 3

Glucose 6-Phosphate Dehydrogenase Deficiency (symptoms)

Answer 3

Hemolytic anemia with oxidative stress (fava beans, sulfonamides, primaquine, Isoniazid, infections).

Question 4

Glucose 6-Phosphate Dehydrogenase Deficiency (histology)

Answer 4

Heinz bodies (precipitated oxidized hemoglobin), Bite cells

Question 5

Fructokinase deficiency

Answer 5

Essential Fructosuria (fructose in blood and urine, asymptomatic). Disrupts Fructose –> Fructose 1-P.

Question 6

Aldolase B defiency

Answer 6

Fructose Intolerance; Fructose 1-P accumulates, inhibits glycogenolysis and gluconeogenesis. Sxn: Hypoglycemia, jaundice, cirrhosis, vomiting. Tx: Decrease intake of fructose and sucrose.

Question 7

Galactokinase Deficiency

Answer 7

Disrupts Galactose –> Galactose 1-P. Sxn: Galactose in blood/urine, infantile cataracts, failure to track objects, no social smile

Question 8

Galactose-1-phosphate Uridyltransferase Deficiency

Answer 8

Classic Galactosemia, Accumulation of toxic galactitol, Sxn: Infantile cataracts, intellectual disability, jaundice, hepatomegaly, failure to thrive. Tx: Exclude galactose and lactose (glucose + galactose).

Question 9

Sorbitol Dehydrogenase Deficiency

Answer 9

Increased sorbitol accumulation, causes osmotic damage (cataracts, retinopathy, peripheral neuropathy seen with diabetics). Schwann cells, retina, and kidneys lack Sorbitol dehydrogenase.

Question 10

Lactase Deficiency

Answer 10

Dietary Lactose intolerance. Primary = Age-dependent decline, Secondary = loss of brush border due to gastroenteritis. Sxn: bloating, cramps, flatulence, osmotic diarrhea.

Question 11

Hyperammonemia

Answer 11

Excess NH4+, depleting alpha-ketoglutarate, inhibit TCA cycle. Sxn: Tremor (Asterixis), slurring of speech, somnolence, vomiting, cerebral edema, blurry vision. Tx: Limit protein in diet, lactulose to acidify GI tract and trap NH4+ for excretion.

Question 12

N-Acetylglutamate Deficiency

Answer 12

Hyperammonemia, since this is required cofactor for Carbomoyl Phosphate Synthetase I (urea cycle)

Question 13

Ornithine Transcarbamylase Deficiency

Answer 13

Disrupts Ornithine + Carbamoyl Phosphate –> Citrulline, Interferes with ammonia elimination. Excess Carbamoyl phosphate converted to Orotic Acid.

Question 14

Phenylalanine Hydroxylase/ BH4 Deficiency

Answer 14

Phenylketonuria, Tyrosine becomes essential. Increased phenylketones in urine. Sxn: Intellectual disability, growth retardation, seizures, fair skin, eczema, musty body odor. Tx: Decrease phenylalanine, increase tyrosine in diet.

Question 15

Maternal PKU

Answer 15

Sxn: Infant has microcephaly, intellectual disability, growth retardation, congenital heart defects.

Question 16

Cystathione Synthase Deficiency

Answer 16

Homocystinuria. Increased methionine. Sxn: intellectual disability, osteoporosis, tall stature, kyphosis, lens subluxation, thrombosis, atherosclerosis, MI

Question 17

Homocysteine Methyltransferase Deficiency

Answer 17

Homocystinuria, Decreased Methione. Sxn: intellectual disability, osteoporosis, tall stature, kyphosis, lens subluxation, thrombosis, atherosclerosis, MI

Question 18

Carnitine Deficiency

Answer 18

Inability to transport Long-Chain Fatty Acids into mitochondria. Sxn: Weakness, Hypotonia, Hypoketotic hypoglycemia

Question 19

Acyl-CoA Dehydrogenase Deficiency

Answer 19

Decreased glucose and ketones