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jayanta
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PAEDIATRIC MEDICINE-NEONATOLOGY.
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01.20.06 (2 years ago)
#1
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WHAT DISEASE IS ASSOCIATED WITH DEFICIENCY OF MALTASE?
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parin
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Pompe disease...
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04.30.06 (2 years ago)
#2
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Type II GSD caused by deficiency of Lysosomal acid alpha 1,4-glucosidase also called Acid Maltase
Inheritance:
AR
Incidence: 1/40,000
Genetics: chromosome 17q25.2
C/F:
Infantile-onset disease:
most severe form
prominant cardiomegaly, hypotonia & death before 2 years d/t cardiorespiratory failure or aspiration pneumonia
infant normal at birth, soon thereafter generalized muscle weakness with "floppy infant appearance"
feeding difficulties
macroglossia & hepatomegaly
heart failure from progressive hypertrophic cardiomyopathy
Juvenile form:
presents as delayed motor milestones or difficult walking in childhood
swallowing difficulties, proximal muscle weakness & respiratory muscle weakness
cardiomegaly variable, overt heart failure not seen
death from respiratory failure before end of 2nd decade
Adult type:
onset b/w 2nd & 7th decades
presents as slowly progressive myopathywithout cardiac involvemtne
slowly progressive proximal muscle weakness with truncal involvement
greater involvement of lower limbs than upper limbs
pelvic girdle, paraspinal muscle & diaphragm most affected
early symptoms may be respiratory insufficiency c/b somnolence, morning headache, orthopnea, exertional dyspnea, eventually sleep-disordered breathing & respiratory failure.
Lab findings:
s. creatine kinase, aspartate aminotransferase & lactate dehydrogenase elevated
Muscle biopsy: vacuoles that stain positively for glycogen, acid phosphatase increased
Electrom Microscopy: glycogen accumulation in membranous sac & in cytoplasm
EMG: excessive elecrical irritability of muscle fibres & pseudomyotonic discharges
Diagnosis:
Demonstration of absence of or reduced levels of acid alpha-glucosidase activity in muscle, cultured fibroblast or blood spots.
Prenatal diagnosis using amniocytes or chorionic villi
Treatment:
no definitive tratment
High-protein diet useful in juvenile & adult forms
Nocturnal ventilator support in late-onset patients improves quality of life
recombinant alpha-glucosidase under experiments, improves cardiac & skeletal muscle functions..
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jayanta
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05.01.06 (2 years ago)
#3
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DEAR PARIN,YOU ARE SIMPLLY INCREASING MY DEBT ON YOU.
ONCE AGAIN A LOT OF THANKX.
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parin
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05.01.06 (2 years ago)
#4
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That's not the thing dear!
In fact, while replying I am referring Nelson etc standard books, which I had not read during my UG. So keep posting & keep asking!! It will be useful to both of us..
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jayanta
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05.02.06 (2 years ago)
#5
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ok,i shall keep on posting.
u can also ask me, i can try a few percentage of that.
SEE YOU.
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parin
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05.02.06 (2 years ago)
#6
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Ok, done!
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jayanta
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05.02.06 (2 years ago)
#7
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