Genetics: Diseases To Know For Pbl Exam #2

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Sir Archibald Garrod

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"inborn errors of metabolism"

recognized metabolic genetic disease

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Alkaptonuria

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"black urine disease"
HGA (homogentisic acid - an intermediate in phenylaline and tyrosine metabolism) is excreted into the urine in large quantities. Darkens the urine.

loss-of-function mutation

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Incidence of metabolic disorders?

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~ 1 in 2,500 births

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Name (6) carbohydrate metabolism disorders

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Classic galactosemia
Hereditary fructose intolerance
Fructosuria
Hypolactasia
Diabetes Mellitus Type I
Diabetes Mellitus Type II
Maturity-onset diabetes of the young

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Name (8) amino acid metabolism disorders

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Phenylketonuria
Tyrosinemia (Type I)
Maple syrup urine disease
Alkaptonuria
Homocystinuria
Oculocutaneous Albinism
Cystinosis
Cystinuria

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Name (3) lipid metabolism disorders

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MCAD
LCAD
SLO

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Name (2) organic acid metabolism disorders

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Methylmalonic acidemia
Propionic acidemia

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Name (3) urea cycle defects

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Ornithini transcarbamylase deficiency
Carbamyl phosphate synthetase defiency
Argininosuccinic acid synthetase deficiency

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Name (4) energy production defects

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Cytochrome c oxidase defiency
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase complex (E1) deficiency
NADH-CoQ reductase deficiency

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Name (4) heavy metal transport defects

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Wilson disease
Menkes disease
Hemochromatosis
Acrodermatitis enteropathica

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Reye Syndrome

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acute metabolic encephalopathy

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Results of some SIDS (Sudden Infant Death Syndrome) autopsies

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defect of fatty acid metabolism

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How are most metabolic disorders inherited?

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In an autosomal recessive pattern.

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"Although a mutant allele produces reduced or no enzyme activity (loss of function), it usually ________ alter the health of a heterozygous carrier.

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Does not.

The mutant allele will not usually compromise the health of a heterozygous carrier.

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MCAD

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Medium-chain acyl-CoA dehydrogenase defiency

Lipid metabolism disorder

SYMPTOMS: hypoglycemia, hyperammonemia, cerebral edema, fatty infiltration of the liver, lethargy, weakness, ketonuria

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Three principle monosaccharides of carbohydrates.

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Glucose
Galactose
Fructose

(Galactose and fructose are converted to glucose before glycolysis)

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The most common monogenic disorder of carbohydrate metabolism:

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Transferase deficiency galactosemia

single missense mutation in exon 6

(classic galactosemia)

affects 1 in every 30,000 newborns

common mutations: GAL-1-P uridyl transferase, UDP-galactose-4-epimerase

SYMPTOMS: poor sucking, failure to thrive, jaundice, cataracts (10%)

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Most common disorder of fructose metabolism:

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Fructosuria

Mutation in the gene encoding hepatic fructokinase

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Hereditary Fructose Intolerance (HFI)

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Caused by a defiency of fructose 1,6-biphosphate aldolase (FBPase) in the liver, kidney cortex, and small intestine

SYMPTOMS: impaired gluconeogenesis, hypoglycemia, serum pH of <7.4 (acidemia), poor feeding, failure to thrive, hepatic and renal insufficiency, death

infants and adults with HFI are asymptomatic unless they eat fructose or sucrose.

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T1DM

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Type I Diabetes Mellitus
high plasma glucose

reduced or absent levels of plasma insulin, usually manifests during childhood

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T2DM

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Type II Diabetes Mellitus

high plasma glucose

insulin resistance, adult onset

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Most common errors of carbohydrate metabolism involve:

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Glucose metabolism

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The ability to metabolize lactose depends partially on _______________________ .

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the activity of an intestinal brush-border enzyme called lactase phlorizin hydrolase (LPH).

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Symptoms of lactase nonpersistance:

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nausea, bloating, diarrhea after ingesting lactose

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Name two organs most severely affected by glycogen storage disorders

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liver
skeletal muscle

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Pompe disease

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Glycogen storage disorder
Type II

Defect in lysosomal acid B-glucosidase

affects cardiac muscle (leads to early death) and skeletal muscle

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Nearly all known enzymes are _______.

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Proteins

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Fundamental structure of proteins:

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amino acids

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T2DM

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Type II Diabetes Mellitus

high plasma glucose

insulin resistance, adult onset

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Most common errors of carbohydrate metabolism involve:

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Glucose metabolism

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The ability to metabolize lactose depends partially on _______________________ .

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the activity of an intestinal brush-border enzyme called lactase phlorizin hydrolase (LPH).

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Symptoms of lactase nonpersistance:

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nausea, bloating, diarrhea after ingesting lactose

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Name two organs most severely affected by glycogen storage disorders

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liver
skeletal muscle

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Pompe disease

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Glycogen storage disorder
Type II

Defect in lysosomal acid B-glucosidase

affects cardiac muscle (leads to early death) and skeletal muscle

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Nearly all known enzymes are _______.

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Proteins

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Fundamental structure of proteins:

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amino acids

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PKU

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Phenylketonuria

defect in the metabolism of phenylalanine (essential amino acid)

Most commonly caused by mutation in PAH (phenylalanine hydroxylase)
-Can be substitution, insertion, or deletion.

SYMPTOMS: disrupts myelination, protein synthesis, and brain function.

1 in every 10,000 people of European descent.

TREATMENT: restrict dietary intake of phenylalanine containing foods, life-long treatment.

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What foods to restrict in:
1) Galactosemia?
2) Diabetes mellitus?
3) MCAD?
4) PKU?
5) MSUD?
6) Urea cycle defects?

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1) carbs
2) carbs
3) fats
4) amino acids
5) amino acids
6) amino acids

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What is a common artificial sweetener that contains phenylalanine?

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aspartame