Biochemical diseases Flashcards
1
Q
Von Gierke
A
- Glu 6 phosphatase deficiency
- Inc in glycogen in liver and kidneys
- Inc in blood lactate, triglycerides and uric acid
- hepatomegaly and renalmegaly
2
Q
Pompe disease
A
- Cardiomegaly, HCM
- hypotonia
- exercise intolerance
- early death
- Deficient lysosoma acid alpha 1,4 glucosidase (acid maltase)
3
Q
Cori
A
- Milder sx than Von Gierke and normal blood lactate levels
- cardiomyopathy
- Deficient debranching enzymes alpha 1,6 glucosidase
4
Q
McArdle disease
A
- Inc glycogen in muscle but can’t break it down leading to cramps, myoglobinuria with exercise
- deficient glycogen phosphorylase
- McArdle Muscle
5
Q
Tay Sach
A
- Hexosaminadase A deficiency leading to GML2 ganglioside accumulation
- AR
- cherry red macula, hyperreflexia, development delay, neurodegeneration
6
Q
Fabry
A
- alpha galactosidase A deficiency → accumulated Ceramide trihexoside
- XR
- episodic peripheral neuropathy, angiokeratoma, hypohidrosis
- eventually renal failure and CVD
7
Q
Metachromatic leukodystrophy
A
- Central and periphieral demyelination ataxia and dementia
- Arylsulfatase A deficiency → Cerebroside sulfate accumulation
- AR
8
Q
Krabbe disease
A
- Galactocerebrosidase deficiency → galactocerebroside psychosinie accumulation
- AR
- peripheral neuropathy, destruction of oligodendrocytes, dev. delay, optic atrophy, globoid cells
9
Q
Gaucher disease
A
- Most common lysosomal storgae disease
- Glucocerebrosidase (beta) deficiency → Glucocerebrosida accumulation
- AR
- Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis, Gaucher cells (crumpled tissue paper)
10
Q
Niemann pick
A
- Sphingomyelinase deficiency leading to sphingomyelin build up, AR
- progresive neurodegeneration, hepatosplenomegaly, foam cells , cherry red spot
- tay sachs similar presentation but NO hepatosplenomegaly
11
Q
Huler
A
- alpha-L-iduronidase leading to heparan sulfate and dermatan sulfate build up
- AR
- dev delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
12
Q
Hunter
A
- Milder hurler syndrome but with aggressive behavior and NO corneal clouding
- hunters need to see
- Iduronate 2 sulfatase deficiency build up of heparan sulfate and dermatan sulfate
- XR
13
Q
PKU
A
- Phenylalanine hydroxylase or tetrahydrobippterin (BH4) deficiency
- intellectural disability, growth retardation, seizure, fair complexion (lack of tyrosine for melanin), eczema
- musty odor
- pallor of substantia nigra, locus ceruleus, vagal nucleus dorsalis
14
Q
MSUD
A
- blocked degradation of branched amino acids such as Isoleucine, Leucine, and Valine
- deficiency of alpha ketoacid dehydrogenase causing an increase in alpha ketoacids in the blood
- vomit, poor feeding, maple syrup/burnt sugar urine, severe CNS defects, intellectual disability, death
15
Q
Alkaptonuria
A
- deficiency of homogentisate oxidase in the path of tyrosine to fumarate leading to pigment in the tissue
- blu black CT ear cartilage and sclera
- urine turns black with exposure to air
- debilitating arthralgia due to homogentistic acid toxicity
