Unit 2: Inborn Errors of Metabolism Flashcards
In OTC deficiency, there is decreased _______ and increased ________.
Citrulline; Glutamine
In Tyrosinemia Type 1, _______ inhibits ______, which causes porphyria-like abdominal pain and peripheral neuropathy
Succinylacetone; delta-aminolevulinic acid dehydratase
Name 3 signs of hyperammonemia
Encephalopathy, Coma, Irreversible neurologic damage
Name 4 signs of maternal PKU syndrome, arising due to poorly controlled PKU in the mother.
Low birth weight, microcephaly, malformation, mental retardation
Name the enzyme deficiency and inheritance pattern: Fabry Disease
Alpha-galactosidase; XL
Name the enzyme deficiency and inheritance pattern: Gaucher Disease
Beta-glucosidase/glucocerebrosidase; AR
Name the enzyme deficiency and inheritance pattern: Hunter Disease
Iduronate sulfatase; XL
Name the enzyme deficiency and inheritance pattern: Hurler Disease
Alpha-iduronidase; AR
Name the enzyme deficiency and inheritance pattern: McArdle Disease
Glycogen phosphorylase; AR
Name the enzyme deficiency and inheritance pattern: Neimann-Pick Disease
Spingomyelinase; AR
Name the enzyme deficiency and inheritance pattern: Pompe Disease
Alpha-glucosidase; AR
Name the enzyme deficiency and inheritance pattern: Tay Sachs Disease
Beta-hexosaminidase A; AR
Name the glycolipid diseases with FDA-approved ERTs (5).
Fabry, Gaucher, Hunter, Hurler, Pompe
Name two ammonia-scavenging medications.
Sodium benzoate, sodium phenylacetate
Name two glycolipid disorders with X-linked inheritance.
Fabry Disease, Hunter Disease
What is the enzyme abnormality and inheritance in classic homocystinuria?
Cystathione-beta-synthase Deficiency; AR
What is the enzyme abnormality and inheritance in MSUD?
Branch chain alpha-keto-acid Dehydrogenase; AR
What is the enzyme abnormality and inheritance in PKU?
Phenylalanine Hydroxylase deficiency; AR
What is the first-line treatment for classic homocystinuria?
B6/Pyridoxine
What is the first-line treatment for Tyrosinemia Type 1?
NTBC
What is the most common enzyme deficiency in urea cycle disorders? What is the inheritance pattern for this defect?
Ornithine Transcarboxylase Deficiency; X-linked
Which amino acids should be restricted in Type 1 Tyrosinemia?
Tyr, Phe
Which pathologic pattern? Acroparesthesias in children
Fabry Disease
Which pathologic pattern? Adult proximal muscle weakness, respiratory failure/sleep apnea
Pompe Disease
Which pathologic pattern? Ataxia, ketoacidotisis, hypoglycemia, coma
MSUD
Which pathologic pattern? Bony pain due to avascular necrosis, hepatosplenomegaly, anemia, thrombocytopenia, restrictive lung disease, adult onset, normal intellect
Gaucher Disease
Which pathologic pattern? Cherry red spot, increased startle reflex, no hepatosplenomegaly
Tay Sachs
Which pathologic pattern? Children, course facies, hoarse voice, cognitive decline, frequent URIs, macroglossia, heart valve problems, hepatosplenomegaly
Hunter Disease
Which pathologic pattern? Children, course facies, hoarse voice, cognitive decline, frequent URIs, macroglossia, heart valve problems, hepatosplenomegaly, corneal clouding, dysostosis multiplex
Hurler Disease
Which pathologic pattern? Death around age 40 secondary to renal failure and cardiac complications
Fabry Disease
Which pathologic pattern? Hypotonia, developmental delay, failure to thrive, spastic paraplegia
MSUD
Which pathologic pattern? Infantile blindness, seizures, mental and motor deterioration
Tay Sachs
Which pathologic pattern? Infantile muscle weakness and hypertrophic cardiomyopathy
Pompe Disease
Which pathologic pattern? Involves accumulations of fumarylacetoacetate, maleylacetoacetate, and succinylacetone
Tyrosinemia Type 1
Which pathologic pattern? Light hair, eczema, unfamiliar odor, seizures, growth delay, intellectual disabilities
PKU
Which pathologic pattern? Liver disease and renal tubulopathy early in infancy
Tyrosinemia Type 1
Which pathologic pattern? Marfanoid Stature, osteoporosis, scoliosis, recurrent thromboembolism, myopia, ectopia lentis, developmental disability, neuropsych symptoms
Classic Homocystinuria
Which pathologic pattern? Muscle cramping/weakness, myoglobinuria, normal cognition and liver enzymes
McArdle Disease
Which pathologic pattern? Poor feeding, progressive lethargy, mild hypoglycemia, ketoacidosis, coma and seizures in first week of life
MSUD
Which pathologic pattern? Porphyria-like attack, corneal lesions, palmoplantar keratosis
Tyrosinemia Type 1
Which pathologic pattern? Proteinuria, angiokeratomas on the trunk, renal failure, cardiac disease, chronic IBS
Fabry Disease
Which pathologic pattern? Rickets due to renal tubulopathy, no apparent liver failure, late in infancy
Tyrosinemia Type 1
Which pathologic pattern? Supranuclear gaze palsy, cherry red spots, massive hepatosplenomegaly
Neimann-Pick Disease
Which supplementations should be considered for chronic treatment of MSUD?
Valine, isoleucine, Thiamine/B1
Which supplements can be considered in classic homocystinuria? (5)
Betaine, Folate, B12, cysteine, methionine
