BIOCHEM FOCUS (URONIC & Galactose Metabolism)

glucoronic acid, ascorbic acid and pentoses

URONIC PATHWAY is a process of conversion of glucose to ______ , ______ and ______

an alternative oxidative pathway for glucose without ATP generatio

UDP-glucuronate

Proteoglycans

It is the active form of glucuronic acid for the reactions involving incorporation of glucuronic acid into ____________ matrix

Steroid hormones, bilirubin ,drugs AND xenobiotics

UDP-glucuronate is use for reactions in which glucuronate is CONJUGATED to substrates such as _______ , _______ , ________ and ________

L-xylulose

The glucuronic acid formed serves as a precursor of

ascorbic acid in other animals, in humans it is

converted to

Essential Pentosuria

Xylulose appearing in urine from lack of enzyme xylulose reductase that leads to this rare benign hereditary condition?

L-gluconolactone

L-gluconolactone oxidase

Humans lack the enzyme that converts _____________ to L-ascorbic acid the enzyme is called ____________

liver

May be used as test of hepatic function

(galactose tolerance test)

Galactose is converted to glucose in the ______

Galactose-1-phosphate uridylTransferase (GALT)

-Classic galactosemia

GalactoKinase deficiency (GALK deficiency)

Galactose Epimerase deficiency (GALE deficiency)

Types of galactosemia and its deficient enzymes

Galactosemia Type 1 _____

Galactosemia Type 2 _____

Galactosemia Type 3 _____

Type 1 Galactose-1-phosphate uridylTransferase (GALT)

-Classic galactosemia

This is the most common and most severe type of Galactosemia

Galactosemia

Galactosuria

Cataracts

Jaundice

Liver damage - hepatomegaly

Failure to thrive

Intellectual disability

Vomiting and diarrhea

Lethargy

Seizures

Type 2 Galactokinase deficiency (GALK deficiency)

type is less severe than classic galactosemia and may not cause symptoms until later in life

Galactosemia

Galactosuria

Cataracts

Speech delay

Tremor

Intellectual disability

Type 3 Galactose epimerase deficiency (GALE deficiency)

This type of Galactosemia is the rarest and usually has mild symptoms,

Cataracts

Tremor

Peripheral neuropathy

galactose and lactose free diet

galactosemia tx

galactose-1-phosphate

Type 1 Galactose-1-phosphate uridylTransferase (GALT)

-Classic galactosemia

leads to increase in?

Galactose

in Type 2 Galactokinase deficiency

(GALK deficiency)

leads to increase in?

UDP-Galactose

Type 3 Galactose EPIMERase deficiency

(GALE deficiency)

leads to increase in?

Carbon 4

back to basic

Galactose is an epimer of Glucose at what carbon?