glutaric acidemia cases（戊二酸血症病例）.docVIP

Glutaric acidemia cases Abstract: Keywords: Glutaric acidemia is a low ketone or ketone hypoglycemia and metabolic acid poisoning as the clinical features of hereditary metabolic deficiency, the pathogenesis of lysine, hydroxylysine and tryptophan metabolism Maternal and Child Health Hospital of Zunyi City, Guizhou Province found key enzyme deficiency causes glutaric accumulation [1] the disease carriers, rare incidence, but after the onset of dangerous conditions, rapid progress at risk if untreated. glutaric acidemia cases, are as follows. 1 Materials and Methods 1.1 GENERAL INFORMATION: children, women, 3 months, the second stage of labor, children third child, 38 weeks of gestational age, maternal no abnormal non-kin marriage, no similar patients in the family birth weight 3 900 g, Apgar score 9 points, artificial feeding, because of the head to the left a bit more treatment in children Hoshina measured body weight 200 g, height 62.5 cm, sitting height of 40 cm, head circumference 45.2 cm. nutrition in the upper obvious big head, no special face children eating good, laugh, eat hand movements can not laugh, the rise of 30 ? the anterior fontanelle 3.5 cm, slightly Peng Long, tension normal head slightly to the left side of the heart, lungs, abdomen normal. grip holding reflex, decreased muscle tone of the limbs. The 1.2 treatments: then do B-check sternocleidomastoid no thickening, outside the hospital to do a head CT scan external hydrocephalus, EEG abnormalities, developmental quotient (DQ83 not found. Then be considered as hydrocephalus cause children with head dystonia and large motor development behind. proposed rehabilitation therapy and were followed up for head circumference growth .4 months old when treatment rehabilitation a side head circumference 47.6 cm, the rise of 30 ?no significant improvement in strength and muscular tension still lower, proposes to switch to a higher level hospital for further examination, and the exclu