No abstract

, we have surveyed serum and u r i n e from 3 1 normal b a b i e s , a t 1 and 5 days of age. Our r e s u l t s have demonstrated t h e pres e n c e of more than 50 o r g a n i c a c i d s , h a l f of which b e a r some r e l a t i o n t o t h e more common o r g a n i c a c i d o p a t h i e s . T h e i r sig n i f i c a n t r i s e i n serum and u r i n e a f t e r formula feeding sugg e s t s t h a t a comparable method of s c r e e n i n g f o r t h o s e o r g a n i c a c i d s known t o b e a s s o c i a t e d w i t h d i s e a s e , should p r e f e r a b l y b e a p p l i e d a f t e r 5 days of l i f e . The u s e f u l n e s s of s e r i a l a n a l y s i s was suggested by t h e presence of p o s s i b l y harmful m e t a b o l i t e s i n 3 serum a t day 1, w i t h normal l e v e l s a t day 5. These included i s o v a l e r i c , methylmalonic, benzoic, phenylacet i c and p-hydroxyphenylacetic a c i d s . We have a p p l i e d o u r method t o t h e i n v e s t i g a t i o n of 4 p a t i e n t s p r e s e n t i n g abnormal amino a c i d u r i a and found l a r g e amounts of t h o s e p h e n o l i c a c i d s c h a r a c t e r i s t i c of tyrosinemia and hyperphenylalaninemia. These f i n d i n g s s u p p o r t t h e r e l i a b i l i t y of o u r procedure i n s c r e e n i n g f o r metabolic d i s e a s e i n l a b o r a t o r i e s where mass spectrometry is u n a v a i l a b l e . This work was supported by t h e Medical Research Council of Canada, Grant MA 4767.BLASTS. Serge B. M e l a n~o n , Michel P o t i e r , Louis D a l l a i r e and Guy Geoffroy. Depc. of Ped. and Neurol., Univ. of Montreal and Ped. Research C t r . , Ste-Justine Hosp. Montreal, Que., Canada.We s t u d i e d a 20 months o l d French-Canadian g i r l p r e s e n t i n g t h e c l i n i c a l p i c t u r e of Tay-Sachs d i s e a s e w i t h p r o g r e s s i v e b l i n d n e s s , b i l a t e r a l c h e r r y r e d s p o t s , hyperacusis, hepatosplenomegaly and hypotonia, w i t h o n s e t of symptoms by 9 months of l i f e . Serum and WBC 0-D-N-acetylglucosaminidase a c t i v i t i e s were reduced t o l e v e l s l e s s than 1% normal. O b l i g a t e heterozygotes showed reduced l e v e l s of t o t a l serum hexosaminidase a c t i v i t y and lower than normal % B form: SERUM HEXOSAMINIDASE (nanomoles/hr/ml . )T o t a l % B form P a t i e n t 3 2 Mother 394 1 4 . 5 F a t h e r 382 12.7 C o n t r o l s 506-950 21-35 A s i m i l a r r e d u c t i o n of total. hexosaminidase t o 8% normal v a l u e s was found i n c u l t i v a t e d s k i n f i b r o b l a s t s from o u r pat i e n t . I n t e r e s t i n g l y , l e v e l s of hexosaminidase were r a i s e d up t o 25% normal v a l u e when f i b r o b l a s t s were grown i n n u t r it i o n a l medium supplemented w i t h prednisolone o r c o r t i s o n e ( 1 m l This o b s e r v a t i o n , i f confirmed i n o t h e r c a s e s of Sandhoff d i s e a s e might s u g g e s t a t h e r a p e u t i c approach i n t h i s r a p i d l y p r o g r e s s i v e ...

A total of 21 patients with linear growth retardation were treated with low doses of oxandrolone for a period of 8 to 41 months. Nine of the patinets had chromosomal disorders. The other 12 had no chromosomal abnormalities. The effect of oxandrolone on the ultimate adult height was assessed by changes in the ratio of the height age and the bone age, (δHA/δBA), and by the adult height prediction (AHP). In the non‐chromosomal group, the ultimate height prediction improved in patients whose initial bone age was greater than 8 1/2 years. In the group with chromosomal disorders, no change in ultimate height prediction occured. In Turner's syndrome, the adolescent growth spurt is much less than in normal children. Therefore, the data were interpreted to signify probable beneficial response to therapy. Evidence suggests that low dose oxandrolone treatment does not compromise ultimate height. Since it may induce an acceleration of growth rate on a short term basis, it can help ameliorate psychological problems due to poor body image in these short patients.