Inborn Errors of Metabolism Flashcards
Which disorder? Complications: chronic lactic acidosis, hepatic cancer, renal dysfunction, osteoporosis
Glucose-6-Phosphatase Deficiency
Which disorder? Complications: progressive liver injury, cirrhosis, death before age 6
Branching Enzyme Deficiency
Which disorder? Fasting hypoglycemia with low levels of ketones, typically appeaing in infants during an infection
CPT1 Deficiency
Which disorder? Hypoglycemia, nausea/vomiting, classically arises following introduction of fruit into the diet
Hereditary Fructose Intolerance
Which disorder? Infants present early in life with severe fasting hypoglycemia 3-4 hours following meals with hepatomegaly
Glucose-6-Phosphatase Deficiency
Which disorder? Infants presenting with ketotic hypoglycemia, hepatomegaly, short stature/delayed growth, and myopathy improving by adulhood
Debranching Enzyme Deficiency
Which disorder? Ketotic hypoglycemia (18-24 hour fast in adults) with hepatomegaly, short stature, and mild muscle weakness
Glycogen Phosphorylase Deficiency/Phosphorylase Kinase Deficiency
Which disorder? Moderate-severe hypoglycemia following 12-18 hours of fasting, low ketones and insulin
Medium Chain Acyl CoA Dehydrogenase (MCAD)
Which disorder? Most common cause of hypoglycemia in childhood due to inadequate energy stores
Ketone hypoglycemia
Which disorder? Nausea/vomiting, cataracts, possible neurologic signs, progressive liver injury leading to jaundice and coagulation disturbances
Galactosemia
Which disorder? Postprandial hyperglycemia followed by fasting hypoglycemia, increased lactate, severe ketosis, no hepatomegaly
Glycogen Synthase Deficiency
Which disorder? Severe lactic acidosis with ketosis and late hypoglycemia following fastin 18-24 hours
Fructose-1,6-bis-phosphatase deficiency
Which disorder? Weakness due to myopathy, hepatomegaly, does not usually present with hypoglycemia
Branching Enzyme Deficiency
Which enzyme is implicated in galactosemia?
Galactose-1-phosphate Uridyltransferase (GALT)
