1 Galactosemia Inability to convert galactose to glucose 2 Galactosemia Inability to convert galactose to glucose 3 Galactosemia Inability to convert galactose to glucose Inheritance: ARabb. 4 Galactosemia Inability to convert galactose to glucose Inheritance: AR 5 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three# enzymes involved in galactose metabolism 6 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism 7 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: most vs most vs Mostleast common and mostleast severe form 8 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form 9 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferasesomething-something-ase enzyme 10 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme 11 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme time time 75% develop cataracts within daysunit to weeksunit of birth 12 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme 75% develop cataracts within days to weeks of birth 13 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme 75% develop cataracts within days to weeks of birth classic two-word . Starts as ‘oildescription droplet’ 14 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme 75% develop cataracts within days to weeks of birth . Starts as ‘oil droplet’ 15 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme 75% develop cataracts within days to weeks of birth . Starts as ‘oil droplet’; progresses to totalclassic opacification two-word description 16 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme 75% develop cataracts within days to weeks of birth . Starts as ‘oil droplet’; progresses to total opacification 17 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme 75% develop cataracts within days to weeks of birth . Starts as ‘oil droplet’; progresses to total opacification To diagnosis classic galactosemia: Check UA for presence of reducingtwo substances words after milkimportant, ingestion often overlooked 18 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme 75% develop cataracts within days to weeks of birth . Starts as ‘oil droplet’; progresses to total opacification To diagnosis classic galactosemia: Check UA for presence of reducing substances after milk ingestion 19 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme 75% develop cataracts within days to weeks of birth . Starts as ‘oil droplet’; progresses to total opacification To diagnosis classic galactosemia: Check UA for presence of reducing substances after milk ingestion Treatment: Elimination of dietary milk productstwo words 20 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme 75% develop cataracts within days to weeks of birth . Starts as ‘oil droplet’; progresses to total opacification To diagnosis classic galactosemia: Check UA for presence of reducing substances after milk ingestion Treatment: Elimination of dietary milk products 21 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme What75% are thedevelop systemic cataracts manifestations within of classic days galactosemia? to weeks of birth Failure. Starts to thrive; as hepatomegaly ‘oil droplet’; with progresses jaundice; impaired to total cogniti opacificationve development HowTo soon diagnosis do these findings classic begin galactosemia: to manifest? Check UA for Withinpresence a few weeks of afterreducing birth substances after milk ingestion Treatment: Elimination of dietary milk products What is the prognosis if classic galactosemia goes untreated? It is uniformly fatal 22 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme What75% are thedevelop systemic cataracts manifestations within of classic days galactosemia? to weeks of birth Failure. Starts to thrive; as hepatomegaly ‘oil droplet’; with progresses jaundice; impaired to total cogniti opacificationve development HowTo soon diagnosis do these findings classic begin galactosemia: to manifest? Check UA for Withinpresence a few weeks of afterreducing birth substances after milk ingestion Treatment: Elimination of dietary milk products What is the prognosis if classic galactosemia goes untreated? It is uniformly fatal 23 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme What75% are thedevelop systemic cataracts manifestations within of classic days galactosemia? to weeks of birth Failure. Starts to thrive; as hepatomegaly ‘oil droplet’; with progresses jaundice; impaired to total cogniti opacificationve development HowTo soon diagnosis do these findings classic begin galactosemia: to manifest? Check UA for Withinpresence a few weeks of afterreducing birth substances after milk ingestion Treatment: Elimination of dietary milk products What is the prognosis if classic galactosemia goes untreated? It is uniformly fatal 24 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme What75% are thedevelop systemic cataracts manifestations within of classic days galactosemia? to weeks of birth Failure. Starts to thrive; as hepatomegaly ‘oil droplet’; with progresses jaundice; impaired to total cogniti opacificationve development HowTo soon diagnosis do these findings classic begin galactosemia: to manifest? Check UA for Withinpresence a few weeks of afterreducing birth substances after milk ingestion Treatment: Elimination of dietary milk products What is the prognosis if classic galactosemia goes untreated? It is uniformly fatal 25 Galactosemia Inability to convert galactose to glucose Inheritance: AR Results from a defect in one of the three enzymes involved in galactose metabolism Classic galactosemia: Most common and most severe form Caused by defect in the uridyltransferase enzyme What75% are thedevelop systemic cataracts manifestations within of classic days galactosemia? to weeks of birth Failure. Starts to thrive; as hepatomegaly ‘oil droplet’; with progresses jaundice;