Biochemistry Diseases

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Glycogen Storage Disease- features Severe hypoglycemia, lactic acidosis, hepatomegaly, hyperlipidemia, hyperuricemia, short stature

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Type I: von Gierke Disease

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Glycogen Storage Disease- features cardiogmegaly, muscle weakness, death by 2 years

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Type II: Pompe disease

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Glycogen Storage Disease- features mild hypoglycemia; liver enlargement

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Type III: Cori disease

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Glycogen Storage Disease- infantile hypotonia, cirrhosis, death by 2 years

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Type IV: Andersen disease

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Glycogen Storage Disease- muscle cramps/weakness during initial phase of exercise, possible rhabdomyolysis and myoglobinuria

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Type V: McArdle disease

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Glycogen Storage Disease- Mild fasting hypoglycemia, hepatomegaly, cirrhoisis

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Type VI: Hers disease

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Pyruvate Disease- lactic acidosis, seizures, mental retardation, ataxia, spasticity

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Pyruvate Dehydogenase Deficiency

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Hexose Monophosphate Shunt- Episodic hemolytic anemia induced by infection and drugs (Common) or chronic hemolysis (rare); x-linked recessive; female hetrozygotes have increase resistance to malaria

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glucose-6-phosphatase Dehydrogenase deficiency

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rate limiting step in critic acid cycle

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Isocitrate dehydrogenase

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Glycolysis disease- galactosemia/galactosuria, cataracts in childhood,

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Galactokinase deficiency

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Glycolysis disease- more severe than galactokinase deficiency with vomiting/diarrhea after milk ingestion, liver disease, lethargy, mental retardation

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Gal-1-P uridyl transferase deficiency

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Glycolysis disease- fructosuria; benign

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Fructokinase deficiency

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Glycolysis disease- fructosuria, liver and proximal renal tubule disorder;

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Aldolase B deficiency

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Glycolysis disease- chronic hemolysis, increased 2,3-BPG and other glycolytic intermediates in the RBC, no Heinz bodies, autosomal recessive

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Pyruvate kinase deficiency

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Glycolysis rate limiting step

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PFK-1

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Glucose transport- basal uptake (most cells)

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GLUT-1 and GLUT-3

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Glucose transport- storage (liver) and glucose sensor (beta-Islet)

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GLUT-2

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Glucose transport- increased by insulin (fat and muscle) increased by exercise (skeletal muscle)

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GLUT-4

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Amino Acid diseases- Tyrosine hydroxylase or tyrosine transporter deficiency. decreased pigmentatin of skin, eyes, and hair

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Albinism

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Amino Acid diseases- Increase serotonin excretion from gastrointestinal neuroendocrine tumors, cutaneous flushing, venous telangiectasia, diarrhea, bronchospasm, cardiac valvular lesions

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Carcinoid Syndrome

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Amino Acid Diseases- Uroporphyrinogen-I synthase deficiency, episodic expression, acute abdominal pain, anxiety, confusion, paranoia, muscule weakness, port-wine urine in some patients.

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Acute Intermittent Porphyria

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Amino Acid Diseases- Uroporphyrinogen decarboxylase deficiency, photosensitivity, skin inflammations, and blistering, cirrhosis often associated.

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Porphyria Cutanea Tards

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Amino Acid Diseases- inhibits ALA dehydratase and ferrochelatase; microcytic sideroblastic anemia; basophilic stippling of RBC, memory loss, neuropathy (claw hand, wrist-drop), increased urine excretion. Tx: dimercaprol and EDTA.

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Lead Poisoning

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Jaundice due to increased bilirubin from severe hemolysis; decreased hemoglobin; increased reticulocytes; may result from
1. G6PD deficiency hemolysis, 2. Sickle cell crisis, 3. Rh disease of newborn

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Hemolytic Crisis

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Jaundice due to low bilirubin conjugation; may result from:
1. Crigler-Najjar syndromes
2. Gilbert Syndrome
3. Physiologic jaundice of newborn

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UDP-Glucuronyl Transferase Deficiency

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Amino Acid disease- transport protein defect with increased excretion of neutral amino acids; symptoms similar to pellagra

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Hartnup Disease

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Amino Acid disease- buildup of Phenylalanine; musty body odor, mental retardatin, microcephaly, Tx: avoid aspartame

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Phenylketonuria

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Amino Acid disease- increased homogentisic acid in blood and urine (darkens when exposed to air), ochronosis (dark pigment in cartilage), arthritis in adulthood.

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Alkaptonuria

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Amino Acid Disease- increased homocystine in urine. dislocated lens, DVT, stroke, atherosclerosis

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Homocystinuria

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Amino Acid Disease- transport protein defect with increase excretion of lysine, arginine, cystine, and ornithine. causes kidney stones: Tx-acetazolamide

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Cystinuria

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Amino Acid Disease- Branched-chain ketoacid dehydrogenase deficiency. maple syrup color of urine, ketosis/coma/death.

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Maple Syrup urine disease

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Amino Acid Disease- Neonatal ketoacidosis from blocked degradation of valine, isoleucine, methionine,threonine, and odd-carbon fatty acids

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Propionyl-CoA carboxylase deficiency and Methylmalonyl- CoA mutase deficiency

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rate-limiting step for fatty acid synthesis (requires biotin)

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Acetyl-CoA Carboxylase

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rate-limiting steps for fatty acid oxidation

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Carnitine acyltransferase-1 (CAT-1)

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Ketone body metabolism- Excess Ketone bodies in blood.

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Diabetic Ketoacidosis

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Ketone body metabolism- Excess ketone bodies due to high NADH/NAD ratio in liver

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Alcoholic Ketoacidosis

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rate-limiting step in cholesterol synthesis

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HMG-CoA reductase

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Lysosomal storage disease- decreased Hexosaminidase A, increase GM2, (whorled membranes in lysosomes), cherry red spots in macula, psychomotor retardatin. Death under 2 years of age

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Tay-Sachs Disease

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Lysosomal storage Diseases- decreased Sphingomylelinase, (Zebra bodies in lysosomes), Hepatosplenomegaly, microcephaly, mental retardation, foamy macrophages

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Niemann-Pick disease

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Lysosomal storage disease- decreased b-glucocerebrosidase, increased glucocerebroside. Gaucher cells -(enlarged macrophages with fibrillary cytoplasm)

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Gaucher disease

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Lysosomal storage disease- decreased a-galactosidase A, renal failure, Telangiectasias, Angiokeratomas, pain in extremities

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Fabry disease

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Lysosomal storage disease- decreased arylsulfatase A; ataxia, dementia, seizures.

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Metachromatic leukodystrophy

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lysosomal storage disease- decreased a-l-iduronidase. coarse facial features, corneal clouding, hepatosplenomegaly, skeletal deformities, Upper airway obstruction. recurrent ear infections. Death before age 10.

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Hurler Syndrome

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Lysosomal Storage disease- decreased l-iduronate-2-sulfatase. Both mild and severe forms. retinal degeneration, aggressive behavior, and death before age 15. Mild form compatible with long life

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Hunter Syndrome