0 Liberacao de repeticao do exame 3 E(0,000233) Dosagem quantitativa da atividade 0 da biotinidase
Picote do exame 4 G(0,000295; 1,3) Realizacao do exame 4 0,000460405 Alterado o exame 4?
It is important to note that in some disorders such as PA and biotinidase
deficiency, all the above metabolic derangements may be present.
(3) Subsequently, more diseases like congenital adrenal hyperplasia, galactosemia, biotinidase
deficiency, G6PD deficiency, and cystic fibrosis were included in the screening program.
Valproate can cause biotin deficiency and may lead to low serum and liver tissue biotinidase
enzyme (4); a major clinical manifestation of biotin deficiency is alopecia.
Laboratory tests showed the following results: hemoglobin: 12.2 g/dL; hematocrit: 39%; leucocytes: 9,000/[mm.sup.3], 65% neutrophiles, 35% lymphocytes and 5% eosynophiles; platelets 251,000 [mm.sup.3]; glucose: 70 mg/dL; urea 23 mg/dL; creatinine 0.6 mg/dL; alkaline phosphatase 40 IU/L; calcium 9 mg/dL, AST 34 U/L, ALT 20 U/L, prothrombin time 13 sec, thromboplastin time 32 sec, lactate dehydrogenase 420 U/L, VDRL negative, HIV negative, Toxo-test negative, T3: 1.95 MU/mL, T4 1.53 MU/mL, amino acids normal, organics acids in urine normal, qualitative biotinidase
present, anion gap 31.6 mEq/L, lactate 2.55 mmol/L, pyruvate 0.06 mmol/L, lactate pyruvate ratio 42.5 mM, ammonium normal (11 Umol/L), kariotype normal.
There is more variability in screening for other conditions such as congenital adrenal hyperplasia and biotinidase
Deficiencia de biotinidase
. Bioquimica, v.27, p.80-86, 2002.
Only four conditions (congenital hypothyroidism, biotinidase
deficiency, PKU, and medium chain-acyl-CoA dehydrogenase or MCAD) were rated as having treatments that prevent all negative consequences.
It also screens for biotinidase
, cystic fibrosis, congenital adrenal hyperplasia, and hearing.
Other diseases being considered to be included in the long term in the PNT, given the required resources, are Biotinidase
deficiency, Acquired Immunodeficiency Syndrome (AIDS), and Congenital Deafness.
The patient's zinc, biotinidase
, cholesterol, and trigtyceride levels were normal.
Some newborn screening systems include tests for congenital adrenal hyperplasia, homocystinuria, maple syrup urine disease, and biotinidase