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· Lacks enzyme G6PD results in premature destruction of RBC if cells are exposed to oxidants,
ASA, legumes and flava beans
2 forms:
Characterized by:
Hemolysis, jaundice, splenomegaly and aplastic anemia
2. Drug induced
Precipitating factors:
Dx Procedure
Nursing Management
· Instruct to avoid foods such us flava beans, red wine, legumes, blueberries, soya foods, tonic
water and other drugs that triggers the attack.
Homocystinuria
REVIEW!!! Ireview natin ang mga level of Mental retardation... lumabas ito last June 06 board.
Profound Mental retardation- IQ<20> thinks like an Infant. Can’t be trained
Severe Mental retardation- 20-35
Moderate 35-50-> can be trained. Mental age is 2-7y/o. Pre-operational stage
Mild- 50-70 Metal age is 7-12. Educable and can go to school
Borderline 70-90
Normal – 90-110
(Balik ulit tayo sa Homocystinuria)
Signs/Symptoms
· Mental retardation
· Downward subluxation of lens (ectopia lentis)
· Slender built
· Pectus excavatum (oist meron din nito ang may Down syndrome, the sternum appears sunken
and the chest concaves.)
· Abnormal thinning and weakness of the bone (osteoporosis and kyphoscoliosis)
· Degeneration of the aorta
Labtest:
Bacterial inhibition assay for methionine- Normal is <1mg>
- A condition where the adrenal does not produce enough cosrtisol and aldosterone but there is an
excessive production of androgens.
- This is also autosomal recessive
Assessment:
In female
· Large clitoris, closed labial folds
· Early appearance of pubic hair
· Deep masculine voice
· No breast development and menstruation
· Excessive hair in face
· (in short nagiging lalaki ung babae, pramis pag nakita nyo ung itsura, ung clitoris eh mukha
nang penis)
In male:
at birth- normal
6 months signs of sexual precocity
3-4 – have pubic hair and enlarged penis, scrotum and prostate but testes is not descended
sterility
Labtest:
High 17-hydroxyprogesterone
Low serum Na
High serum K
Treatment:
Corticosteroid
Diet: High sodium, low potassium
PHENYLKETONURIA
Galactosemia
Dx:
Beutler test – get blood -done after 1st feeding
presence of glucose in blood – sign of galactosemia
galactose free diet lifetime
neutramigen – milk formula
Pathophysiology:
Gluten – glutamine ( normal absorption)-> Gliadin ( toxic to epithelial cells of villi of intestines,
effects is malabsorption syndrome)
Malabsorption
-> Fats-> steatorrhea
->malnutrition and edema
-> Vit D calcium->osteomalicia
->Vitamin K->inadequate blood coagulation->bleeding
->iron folic acid-> anemia
Early Sx:
1. diarrhea – failure to gain wt ff diarrheal episodes
2. constipation
3. vomiting
Late Sx:
abd pain – protruberant abd even if with muscle wasting
steatorrhea
Mgt:
vitamin supplements
mineral supplements
steroids