Exam 3 Clinical Correlates Flashcards
Glycolysis defects
- pyruvate kinase deficiency
-galactosemia
-fructose and galactose mutations
-essential Fructossura
-hereditary fructose intolerance
Pyruvate Kinase Deficiency
-lack of Atp –> hemolytic anemia
-jaundice
Fructose and galactose mutations
-recessive inheritance
-failure to thrive
-multi-organ involvement triggered by offending food
Essential Fructosuria
-fructokinase deficiency does not enter the liver
-excessive fructose in urine
Hereditary fructose intolerance
-Aldolase B deficiency
-FIP trapped in liver
-depletes phosphate
-inhibits glycogen mobilization (hypoglycemia)
-liver damage
Galactosemia
-galactose 1 phosphate uridyltransferase deficiency
-galactose 1 phosphates accululate in liver, cns, kidney (diarrhea, jaundice, vomiting)
-UDP galactose epimerase deficiency
-galactokinase deficiency
Mitochondrial effects
-DNP
-MERF
-MELAS
-combined oxidative phos. deficiency
DNP
-uncoupling
-collapses proton gradient and bypasses ATP synthase
-hyperthermia, tachycardia, diaphoresis, death
MERF
-point mutation in trna for lysine
-myoclonus
-ataxia
-seizures
MELAS
-mutation in trna for leucine
-mitochondrial myopathy enoephalopathy
-lactic acidosis
-stroke like episodes
Combined oxidative phos. deficiency
- mutation in mitochondrial elongation
- mutation in ribosomal protein s16
-metabolic acidosis
-microcephaly
-liver dysfunction
-growth retardation
-encephalopathy
BeriBeri
-thiamine deficiency
-pain and parathesia
-wet - CHF and peripheral edema
-dry - symmetrical peripherial neuropathy
Wernickes encephalopathy
-thiamine deficiency, alcoholism
-mental impairment, cerebellar ataxia, opthalmoplega
-can be treated with thiamine
-can lead to koraskoff which is severe learning defect
Chronic lactic acidosis
-pyruvate dehydrogenase deficiency
-severe neuro defects
-mutations in E1
Fumarase deficiency
-elevated urine fumarate
-neuro impairment
-lactic acidemia
-dystonia
-encephalopathy