Page 1 of 1: PAEDIATRIC MEDICINE-NEONATOLOGY.

jayanta · Credits: 35603 My Scrapbook My Reading List 45 Books

WHAT DISEASE IS ASSOCIATED WITH DEFICIENCY OF MALTASE?

parin · Credits: 14540 My Scrapbook My Reading List 1 Books

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..

jayanta · Credits: 35603 My Scrapbook My Reading List 45 Books

DEAR PARIN,YOU ARE SIMPLLY INCREASING MY DEBT ON YOU.
ONCE AGAIN A LOT OF THANKX.

parin · Credits: 14540 My Scrapbook My Reading List 1 Books

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..

jayanta · Credits: 35603 My Scrapbook My Reading List 45 Books

ok,i shall keep on posting.
u can also ask me, i can try a few percentage of that.
SEE YOU.

parin · Credits: 14540 My Scrapbook My Reading List 1 Books

Ok, done!

jayanta · Credits: 35603 My Scrapbook My Reading List 45 Books

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