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select screening procedure for possible metabolic problem in a new born with
severe jaundice and a septicemia like picture, awaitng culture proof;

the floor is open

ADA deficiency? Guessing.. anymore hints

blood Calcium level?

why do u think its calcium sali?

what about Thyroxine level..

Galactose -------- G1P ---block here---- UDP Galactose---- UDPglucose----Glycogen

intracelullar G1p is toxic to
neuron
hepatocyte so jaundice
leucocytes so septicemia like picture, awaitng culture proof

on first exposure to milk the child become ill within a few days with jaundice lethargy vomiting and very often septicemia due to E. coli

This phase of the illness is fatal unless treated

Strict galactose exclusion from the diet

no no no. thyroxine is not agood choice. hypothyroidism does not manifest in newborns, its aysmptomatic
they start with progressive MR with months pass by

thanks. nice one.. stirred my neurons..

newborn vomits after each feeding of milk-based formula, and does not gain weight. Biochemical testing reveals
a severe deficiency of galactose-1-phosphate uridyltransferase, consistent with homozygosity. If this condition
goes untreated, what is the likely outcome for this patient?


A. Benign disease except for cataract formation

B. Chronic emphysema appearing in early adulthood

C. Chronic renal failure appearing in adolescence

D. Death in infancy

E. Gastrointestinal symptoms that remit with puberty

dddd

newborn appears normal at birth, but develops vomiting and diarrhea accompanied by jaundice and
hepatomegaly within the first few weeks of life. Within months, the baby has obvious cataracts and ascites. The
infant is switched to a milk-free diet, which stabilizes but does not completely reverse his condition. By one year of
age, he has developed mental retardation. Which of the following is the most likely diagnosis?


A. Cystic fibrosis

B. Galactosemia

C. McArdle's disease

D. Von Gierke's disease

E. Wilson's disease



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