Biochemistry Flashcards
What is the probably disorder in a child with closely related parents:
- coarse facial features
- clouded corneas
- restricted joint movement
- slightly misshapen long bones
- hyperplastic gums?
I-cell disease
What is the etiology of I-cell disease?
Dysfunction in the phosphorylation of mannose of lysosomal receptors
-proteins are secreted extracellularly rather than delivered to lysosomes
Besides dietary restriction, infants with Maple syrup urine disease can be supplemented with what? why?
what is the deficient enzyme?
which amino acids build up?
Thiamine - helps convert Valine and Isoleucine to Propionyl CoA
deficient alpha-keto acid dehydrogenase
build up of isoleucine, leucine, valine
What is the proper supplementation for a pt with Homocysteinuria?
Pyridoxine
5 month old female presents with poor feeding and chronic diarrhea. There is a small bulge in the umbilicus that becomes more prominent when the infant is crying.
Bulging frontal bones, coarse facies, hepatosplenomegaly. complete corneal opacification
What is the dz and what is the pathophysiology?
Hurler’s syndrome (mucopolysaccharidosis Type I) - glycosaminoglycan accumulation in lysosomes
can present with valvular heart dz (aortic regurg from valve thickening)
comparable to milder: Hunter dz (type II) - no corneal opacities
What pharmaceutical med can be used in Gilbert syndrome to decrease Sx?
Phenobarbital - increases liver enzymes = increases UPDGT
What is the enzyme deficiency in Tay-Sachs disease?
deficient hexosaminidase-A
–accumulation of gangliosides in the lysosomes of the CNS7
Identify dz and deficient enzyme:
4 year old presents with extensive bruising, deformity of the distal femur, painless hepatosplenomegaly, yellow fatty deposits on the sclera. Enzymatic assay showed low glucocerebrosidase activity in fibroblasts
Gaucher - deficient B-glucosidase
-erlenmeyer flask deformity (flaring) of the femur
What is the deficient enzyme in Niemann-Pick dz? demographic?
sphingomyelinase - sphingomyelin accumulates in CNS and non-neural tissue
Ashkenazi Jews
Ashkenazi jews also are affected by Taysachs
5 year old with mental delay, well-developed verbal skills, extreme friendliness with strangers, elfin appearance. Hypercalcemia
Identify dz and affected chromosome
William syndrome - Chromosome 7
-contains elastin gene
What is the technique described:
DNA cut into fragment by restriction endonucleases. Fragment electrophoresed on gel, transferred to a filter. filter is soaked in denaturant and exposed to DNA probe.
Southern blot - used to identify a particular DNA sequence from a sample
13 year old African American female presents with complains of muscle pain, stiffness, and tenderness. Sx are worse during prolonged exercise and when shes hungry. PMH of ICU admission for rhabdomyolysis. Urine sample is cola colored. Pt is found to have a carnitine palmitoyltransferase deficiency
what is this enzyme for?
Transport of long-chain fatty acids from the cytosol to the mitochondria
1 year old male w failure to thrive. has not met milestones (rolling over from back, lifting chest from ground). Normal vital signs. Muscle strength is weak diffusely, Abdominal exam shows hepatomegaly. Blood tests reveal hypoglycemia with normal blood lactate levels
what is dz and deficient enzyme?
Type III glycogen storage dz (Cori’s disease)
–involves both LIVER + MUSCLE
–present early w early weakness, hepatomegaly, hypoglycemia
absent
alpha 1,6-glucosidase enzyme
44 year old presents with abdominal discomfort. has noticed bony pain. significant hepatosplenomegaly w asciteds. Anemia and thrombocytopenia. Peripheral white blood cells show mildly decreased glucocerebrosidase activity
what is dx?
Gaucher dz - lipid storage disorder
- hepatomegaly
- anemia
- thrombocytopenia
13 month old present b/c parents are worried that he is biting his lips and fingers. Orange sand-like material in his diapers.
Difficulty holding head up and sitting erect.
Serum/Urine = elevation of serum uric acid, great increase in uric acid to creatinine ratio
what is diagnosis and etiology?
Lesch-Nyhan syndrome
- -x-linked recessive
- -severe deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
- -Sx = self mutilation (self biting), retardation, neuro disability, hyperreflexivity, choreoathetosis, hyperuricemia (orange sand)
can be tx’d w Allopurinol