VALDEZ, DENNIS BRYAN A. BMLS II H ASSIGNMENT A.

. GLYCOGEN STORAGE DISEASES DISEASE GSD Type I (Von Gierke disease) GSD Type II (Pompes disease) GSD Type III (Coris disease) GSD Type IV (Andersens disease) GSD Type V (McArdles disease) GSD Type VI (Hers disease) GSD Type VII (Taruis disease) ENZYME DEFICIENCY

Clinical Chemistry I: Lecture TTHS 9:30-10:30 R307 19 January 2013

CHARACTERISTICS Hypoglycemia, Hepatomegaly, Hyperlipidemia, Growth failure, Lactic acidosis, hyperuricemia Hepatomegaly,Hyperlipidemia, Muscle weakness, heart failure Hypoglycemia, Hyperlipidemia, Myopathy

glucose-6-phosphatase

acid alpha-glucosidase glycogen debranching enzyme glycogen branching enzyme muscle glycogen phosphorylase liver glycogen phosphorylase muscle phosphofructokinase phosphorylase kinase, PHKA2 glucose transporter, GLUT2

Failure to thrive, death at age ~5 years

Exercise-induced cramps, Rhabdomyolysis, Renal failure by myoglobinuria Hypoglycemia, Hepatomegaly Exercise-induced muscle cramps and weakness, growth retardation, Haemolytic anaemia Hypoglycemia, Hyperlipidemia, Delayed motor development, Growth retardation Hypoglycemia, Hepatomegaly

GSD Type IX GSD Type XI (Fanconi-Bickel syndrome) GSD Type XII (Red cell aldolase deficiency) GSD Type XIII

Aldolase A

Exercise intolerance, cramps Exercise intolerance, cramps, Increasing intensity of myalgias over decades, Episodic elevations of serum CK Hypoglycemia, Occasional muscle cramping

-enolase GSD Type 0 glycogen synthase

VALDEZ, DENNIS BRYAN A. BMLS II H ASSIGNMENT B. METABOLIC DISORDERS OF OTHER SUGARS DISEASE Galactosemia ENZYME DEFICIENCY/ CAUSE Caused by lack of one of the enzymes needed to metabolize the sugar in milk.Galactose-1 phosphate uridyl transferase deficiency (classic galactosemia, the most common and most severe form; galactose kinase; galactose-6-phosphate epimerase. Due to a deficiency of fructose-1phosphate aldolase B which converts fructose into two 3carbon units, mainly in the liver.

Clinical Chemistry I: Lecture TTHS 9:30-10:30 R307 19 January 2013

CHARACTERISTICS Vomiting, jaundice, diarrhea, and abnormal growth, hypoglycaemia occur soon after birth. Amino acids in the urine and/or blood plasma (aminoaciduria). Enlarged liver (hepatomegaly). Fluid in the abdomen (ascites). Low blood sugar (hypoglycemia). Symptoms do not develop until sucrose or any of its common precursors, sucrose and sorbitol, is introduced into the diet, when hypoglycaemia and vomiting occur, probably as a result of intracellular accumulation of fructose-l-phosphate. People who have lactose intolerance notice symptoms shortly after eating or drinking a lot of dairy products or milk. The symptoms can include a bloated belly, pain in the abdomen (lower belly), extra flatulence (gas or wind), and diarrhea. During infancy and childhood, short stature, hairiness, and abnormal development become noticeable. The face may appear coarse. Some types of mucopolysaccharidoses cause intellectual disability to develop over several years.

Hereditary Fructose Intolerance

Lactose intolerance (hypolactasia)

Caused by insufficient levels of lactase, an enzyme that catalyzes hydrolysis of lactose into glucose and galactose, in their digestive system. Occur when the body lacks enzymes needed to break down and store complex sugar molecules (mucopolysaccharides).

Mucopolysaccharidoses

REFERENCES: Berry GT, Segal S, Gitzelmann R. Disorders of Galactose Metabolism. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, eds. (2007). Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer. zen, Hasan (2007). Glycogen storage diseases: New perspectives. World Journal of Gastroenterology. www.wjgnet.com Sanders, Lee M. (2009). Disorders http://www.merckmanuals.com of Carbohydrate Metabolism . Available:

Stojanov, Ljubomir (2013). Glycogen Storage Diseases http://emedicine.medscape.com/article/1116574-overview

Types

I-VII.

Available:

Wilt TJ, Shaukat A, Shamliyan T, Taylor BC, MacDonald R et al. (2010). Lactose intolerance and health. Evid Rep Technol Assess; 192: 1-410.

VALDEZ, DENNIS BRYAN A. BMLS II H ASSIGNMENT A. GLYCOGEN STORAGE DISEASES

Clinical Chemistry I: Lecture TTHS 9:30-10:30 R307 19 January 2013

DISEASE GSD Type I (Von Gierke disease)

ENZYME DEFICIENCY

CHARACTERISTICS Large and fatty liver and kidneys;low blood sugar; high levels of lactate, fats, and uric acid in the blood; impaired growth and delayed puberty; osteoporosis; increased mouth ulcers and infection Enlarged liver and heart; In severe cases, muscle weakness and heart problems develop; In severe cases, infants may suffer fatal heart failure by the age of 18 months. Swollen abdomen due to an enlarged liver; Growth delay during childhood; Low blood sugar; Elevated fat levels in blood; Possible muscle weakness Growth delay in childhood; Enlarged liver; Progressive cirrhosis of the liver (which may lead to liver failure); May affect muscles and heart in late-onset type Muscle cramps during exercise; Extreme fatigue after exercise; Burgundy-colored urine after exercise Liver enlargement occurs, but diminishes with age; Low blood sugar Muscle cramps with exercise Anemia Liver enlargement occurs, but diminishes with age; Low blood sugar Hypoglycemia, Hepatomegaly

glucose-6-phosphatase

GSD Type II (Pompes disease)

acid alpha-glucosidase

GSD Type III (Coris disease)

glycogen debranching enzyme

GSD Type IV (Andersens disease)

glycogen branching enzyme

GSD Type V (McArdles disease) GSD Type VI (Hers disease) GSD Type VII (Taruis disease) GSD Type IX GSD Type XI (Fanconi-Bickel syndrome) GSD Type XII (Red cell aldolase deficiency) GSD Type XIII

muscle glycogen phosphorylase liver glycogen phosphorylase

muscle phosphofructokinase phosphorylase kinase, PHKA2 glucose transporter, GLUT2

Aldolase A

Exercise intolerance, cramps Exercise intolerance, cramps, Increasing intensity of myalgias over decades, Episodic elevations of serum CK Hypoglycemia, Occasional muscle cramping

-enolase GSD Type 0

glycogen synthase

VALDEZ, DENNIS BRYAN A. BMLS II H ASSIGNMENT

Clinical Chemistry I: Lecture TTHS 9:30-10:30 R307 19 January 2013

B. METABOLIC DISORDERS OF OTHER SUGARS DISEASE Galactosemia ENZYME DEFICIENCY/ CAUSE Galactose-1 phosphate uridyl transferase deficiency (classic galactosemia, the most common and most severe form; galactose kinase; galactose-6-phosphate epimerase. Caused by lack of enzymes needed to break down and store complex sugar molecules (mucopolysaccharides). Caused by insufficient levels of lactase, an enzyme that catalyzes hydrolysis of lactose into glucose and galactose, in their digestive system. Caused by deficiency of fructose1-phosphate aldolase B which converts fructose into two 3carbon units, mainly in the liver. CHARACTERISTICS Convulsions, irritability, lethargy, poor weight gain, yellow skin and whites of the eyes (jaundice), vomiting, enlarged liver (hepatomegaly). fluid in the abdomen (ascites), low blood sugar (hypoglycemia). During infancy and childhood, short stature, hairiness, and abnormal development become noticeable. The face may appear coarse. Some types of mucopolysaccharidoses cause intellectual disability to develop over several years. Bloating, pain or cramps, gurgling or rumbling sounds in your belly, loose stools or diarrhea, throwing up. Symptoms do not develop until sucrose or any of its common precursors, sucrose and sorbitol, is introduced into the diet, when hypoglycaemia and vomiting occur, probably as a result of intracellular accumulation of fructose-l-phosphate.

Mucopolysacc haridoses

Lactose intolerance (hypolactasia)

Hereditary Fructose Intolerance

Berry GT, Segal S, Gitzelmann R. Disorders of Galactose Metabolism. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer;2006:chap 7.