LCBiochem(topic4.1)MonoDisach

??

Lack of fructokinase

•       Z______ and C______ (1876)

•       Autosomal _______ disorder

Benign, assymptomatic

•       Presentation

•       ↑ fructose – ______ and ______

•       Diagnosis (3)

•       ______ assay on ______ biopsies

•       ______ loading followed by ______ studies

•       Determination in ______/______

•       Treatment

•       ______

??

aka fructose poisong

causes severe hypoglycemia, vomiting, jaundice, hemorrhage, hepatomegaly, and hyperuricemia

absent aldolase B leading to intracellular trapping of fructose 1-P

can cause hepatic failure & death

therapy: rapid detection & removal of _________ & _________ from the diet

??

•       Mutations in FBP1

•       B______ and W_____ (1970)

•       Blockade leads to accumulation of gluconeogenic substrates

•       1:350,000

•       Presentation:

•       Hepatomegaly

•       Acidosis

•       Diagnosis (4)

•       ______ tolerance test

•       ______ ______ DNA

•       ______ biopsy

•       ______ ketone levels

Congenital Disorders of Glycosylation

3 enzymes

•       __________

•       __________

•       __________

•       Screening for __________ congenital disorders of glycosylation

•       Diagnosis

•       __________

•       __________

???

rare autosomal recessive disorder

causes elevation of galactose in blood (_________) and urine (_________)

causes galactitol accumulation if galactose is present in the diet

elevated galactitol can cause ______

treatment is ______ restriction

???

the enzyme is present in liver, kidney, retina, lens, nerve tissues, seminal vesicles, and ovaries

physiologically unimportant in galactose metabolism unless galactose levels are high (as seen in galactosemia)

elevated galactitol can cause cataracts

???

galactose 1-phosphate uridyltransferase (GALT) deficiency

autosomal recessive d/o

prenatal diag. is possible by chronic villus sampling. New born screening is available

therapy: rapid diagnosis and removal of galactose (and therefore lactose) from diet

despite adequate treatment, at risk for developmental delays and in females, premature ovarian failure

 galactokinase deficiency

____ galactokinase

____ galactokinase 1 phosphate

____. galactitol

GALAC-tokinase deficiency

G_______

A_______

L_______

A_______

C_______

Classic galactosemia

____ galactokinase 1 phosphate uridytransferase

____ galactitol

____  galactose

CLASSIC  galactosemia

C_______(_______)

L_______(_______)

A_______

S_______ (_______)

I_______

C_______ (_______,_______)

Fasting Blood Sugar / Fasting Plasma Glucose

•       ADA: _______ mg/dL

•       After a meal: ______ mg/dL.

•      ______ hr fast

•       DM

•       if FBG ______ mg/dl (7.0mM) on 2 occasions

•       Pre-Diabetes / Impaired fasting glucose

•       if : ______ - ______ mg/dl

???

•       > 200 mg/dl (11.1mM) plus

•       Polyuria, polydipsia, unexplained weight loss

•       Confirm on subsequent visit with fasting blood glucose or oral glucose tolerance test

Glycosylated Hemoglobin (HbA1c)

Indications

1.  Monitor diabetes control

2.  Average glucose index

3.  Helps to determine which type of drugs may be needed

4.  Its measurement is of value in a specific group of patients like:

   1. Diabetic children

   2. Diabetic patients whose renal threshold for glucose is abnormal.

   3. Unstable diabetes type I, taking insulin.

   4. Type II diabetic women who become pregnant.

   5. Patients with changing dietary or other habits.

5.  Repeated every 3 to 4 months

Glycogen Synthase Deficiency

An inherited genetic dse

Enzyme affected: glycogen synthase

The body is unable to store glycogen

Liver: chromosome ____

-hypoglycemia when fasting

-hyperglycemia right after meals

Muscle: chromosome ____

-frequent fatigue and muscle cramps

Type 1a ___________ DiseASE (____________deficiency)

Type 1b ___________ deficiency

Affects liver and kidney

Fasting hypogycmia -  severere

Fatty liver, hepato- and renomegaly

Progressive renal disease

Growth retardation and delayed puberty

Hyperlacticacidemia, hyperlipidemia, and hyperuricemia

Normal glycogen structure; increased glycogen stored

Type 1b characterized by ___________penia

Treatment: nocturnal gastric infusions of glucose or regular administration of uncooked ___________

Glycogen storage primarily affects muscle tissue groups

Major muscle groups

-_________muscle (infantile)

-proximal skeletal muscle (esp. in ________ and _____ limbs)

-___________ muscles