CBSE EXAM
1 12 months antique gives with abnormalities. PE famous developmental delay, coarse facial
capabilities, skeletal abnormalities, umbilical hernia, corneal clouding. Baby's liver and
spleen are enlarged, and the joints are stiff - ANS-Hurler Syndrome
One of the mucopolysaccharidoses sicknesses
Caused by using alpha L-iduronidase defect (can not spoil down dermatin sulfate and
heparan sulfate - accumulates in tissues)
19 year old lady gives with extreme muscle aches after running out. Urine is the shade of
"cherry soda pop"
Labs monitor serum creatinase stage of 93970 IU/L. Urine nice for myoglobin -
ANS-McArdle's disease (Type V glycogen garage disorder)
No growth in lactic acid after operating due to the fact lactic acid is a fabricated from
glucose/glycogen metabolism
Cherry soda pop urine is because of myoglobinuria from muscle groups breaking down due
to loss of glucose, as well as multiplied creatine kinase
2 year vintage starts biting palms and scratching face often - has turn out to be an increasing
number of irritable. Mother reviews orange "sand" in diaper. Serum uric acid level of fifty five
mg/dL. Urinalysis exhibits crystalluria and microscopic hematuria - ANS-Lesch-Nyhan
syndrome
Caused by deficiency in HGPRT
Can also be an acronym!
H = Hyperuricemia
G = Gout
P = Pissed off
R = Retardation
T = dysTonia
Hyperuricemia is what causes the orange "sand"
2 yr antique offers due to poor improvement in addition to vomiting, irritability, and a skin
rash. Mother says his urine has a peculiar "mousy" odor. He has a pretty truthful-skinned
complexion compared to the relaxation of his own family. PE well-knownshows hypertonia,
hyper reflexiveness, and an eczema-like rash. - ANS-Phenylketonuria
, Findings: intellectual disability, increase retardation, seizures, fair pores and skin, eczema,
musty frame smell
Deficiency in metabolism of phenylalanine --> results in excess phenyl ketones in blood
(musty scent)
2 yr old with intellectual retardation and limited joint motion. PE famous coarse facial
capabilities and clouded corneas. Blood assessments monitor elevated lysosomal enzymes
within the serum. Parents are first cousins - ANS-I-mobile sickness
Similar to Hurler syndrome but with findings at delivery
First cousins just says that there may be an elevated threat of an autosomal recessive trait
being passed
Mutation of the golgi apparatus which maintains a marker from being brought to proteins
destined for lysosomes
Lysosomes collect non-degradable cloth and the lysosomal enzymes from the golgi are
secreted from the mobile, showing up within the blood
36 year antique man provides with shortness of breath. Admits to great records of
alcoholism. Experiences tingling and burning in his legs for past numerous weeks. PE
exhibits he's tachycardia, has rales bilaterally, and has bilateral pitting edema. Also has
reduced sensation in his toes and is hypo reflexive in his lower extremities. An x-ray of his
chest shows an enlarged cardiac silhouette and bilateral pulmonary congestion. -
ANS-Vitamin B1 deficiency -- not unusual in alcoholic and malnourished sufferers
Brain and heart affected first
Patient is experiencing BOTH dry and moist beribi
Wet beribi: excessive-output congestive coronary heart failure and dilated cardiomyopathy
Dry beribi: peripheral neuropathy inclusive of muscular atrophy and faded sensation and
reflexes (You'll see this in B12 deficiency however no wet beribi)
THINK BER1B1 to don't forget B1
Patient could also become stricken by Wernicke encephalopathy and Wernicke-Korsakoff
syndrome
five month antique of Ashkenazi Jewish descent affords for worries about developmental
regression. Developed generally for four months, however can now not roll over through
herself. No longer smiles. PE well-knownshows a cherry-purple spot in the macula. -
ANS-Tay-Sachs disorder
1 12 months antique gives with abnormalities. PE famous developmental delay, coarse facial
capabilities, skeletal abnormalities, umbilical hernia, corneal clouding. Baby's liver and
spleen are enlarged, and the joints are stiff - ANS-Hurler Syndrome
One of the mucopolysaccharidoses sicknesses
Caused by using alpha L-iduronidase defect (can not spoil down dermatin sulfate and
heparan sulfate - accumulates in tissues)
19 year old lady gives with extreme muscle aches after running out. Urine is the shade of
"cherry soda pop"
Labs monitor serum creatinase stage of 93970 IU/L. Urine nice for myoglobin -
ANS-McArdle's disease (Type V glycogen garage disorder)
No growth in lactic acid after operating due to the fact lactic acid is a fabricated from
glucose/glycogen metabolism
Cherry soda pop urine is because of myoglobinuria from muscle groups breaking down due
to loss of glucose, as well as multiplied creatine kinase
2 year vintage starts biting palms and scratching face often - has turn out to be an increasing
number of irritable. Mother reviews orange "sand" in diaper. Serum uric acid level of fifty five
mg/dL. Urinalysis exhibits crystalluria and microscopic hematuria - ANS-Lesch-Nyhan
syndrome
Caused by deficiency in HGPRT
Can also be an acronym!
H = Hyperuricemia
G = Gout
P = Pissed off
R = Retardation
T = dysTonia
Hyperuricemia is what causes the orange "sand"
2 yr antique offers due to poor improvement in addition to vomiting, irritability, and a skin
rash. Mother says his urine has a peculiar "mousy" odor. He has a pretty truthful-skinned
complexion compared to the relaxation of his own family. PE well-knownshows hypertonia,
hyper reflexiveness, and an eczema-like rash. - ANS-Phenylketonuria
, Findings: intellectual disability, increase retardation, seizures, fair pores and skin, eczema,
musty frame smell
Deficiency in metabolism of phenylalanine --> results in excess phenyl ketones in blood
(musty scent)
2 yr old with intellectual retardation and limited joint motion. PE famous coarse facial
capabilities and clouded corneas. Blood assessments monitor elevated lysosomal enzymes
within the serum. Parents are first cousins - ANS-I-mobile sickness
Similar to Hurler syndrome but with findings at delivery
First cousins just says that there may be an elevated threat of an autosomal recessive trait
being passed
Mutation of the golgi apparatus which maintains a marker from being brought to proteins
destined for lysosomes
Lysosomes collect non-degradable cloth and the lysosomal enzymes from the golgi are
secreted from the mobile, showing up within the blood
36 year antique man provides with shortness of breath. Admits to great records of
alcoholism. Experiences tingling and burning in his legs for past numerous weeks. PE
exhibits he's tachycardia, has rales bilaterally, and has bilateral pitting edema. Also has
reduced sensation in his toes and is hypo reflexive in his lower extremities. An x-ray of his
chest shows an enlarged cardiac silhouette and bilateral pulmonary congestion. -
ANS-Vitamin B1 deficiency -- not unusual in alcoholic and malnourished sufferers
Brain and heart affected first
Patient is experiencing BOTH dry and moist beribi
Wet beribi: excessive-output congestive coronary heart failure and dilated cardiomyopathy
Dry beribi: peripheral neuropathy inclusive of muscular atrophy and faded sensation and
reflexes (You'll see this in B12 deficiency however no wet beribi)
THINK BER1B1 to don't forget B1
Patient could also become stricken by Wernicke encephalopathy and Wernicke-Korsakoff
syndrome
five month antique of Ashkenazi Jewish descent affords for worries about developmental
regression. Developed generally for four months, however can now not roll over through
herself. No longer smiles. PE well-knownshows a cherry-purple spot in the macula. -
ANS-Tay-Sachs disorder
