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2EMT
b. Pyruvate kinase
- It is an autosomal recessive disorder and most common red cell enzymopathy
after G-6-PD deficiency.
- PK catalyses the conversion of phosphoenolpyruvate to pyruvate with the
generation of ATP.
- Inadequate ATP generation leads to premature red blood cell death (Prickle
cells).
- On the other hand, patients with pyruvate kinase deficiency the level of 2,3-
BPG in RBC is high, resulting in low oxygen affinity of Hb observed.
c. Glucose-6-(P)-dehydrogenase
- G-6-PD deficiency is a X-linked recessive disorder.
- Frequency is 1 in 5,000 births.
- The deficiency occurs in all the cells of affected individuals.
- But it is more severe in RBCs.
- RBCs depend only on HMP shunt for their NADPH requirement.
- G-6PD deficiency leads impaired NADPH production, so oxidized glutathione is
not converted to its reduced form.
- Low NADPH concentration also results the accumulation of methemoglobin
and peroxides in RBC, causes loss of RBC membrane integrity.
- Till now it is mostly asymptomatic.
- But when the enzyme deficient subjects exposed to severe infection,
administered oxidant drugs such as
• Anti-malarial (Primaquine)
• Anti-biotic (Sulfamethoxazole)
• Acetanilide (Antipyretic)
- Favism: Ingestion of FAVA beans.
- Leads to -> Hemolytic anemia.
- Symptoms:
• The build up of galactose and the other chemicals can cause serious
health problems like
• Swollen and inflamed liver,
• Kidney failure,
• Stunted physical and mental growth, and
• Cataracts in the eyes.
• If the condition is not treated there is a 70% chance that the child could
die.
- Treatment: Galactose free diet is preferred i.e. milk will be avoided.
6. Pentosuria
- It is a rare autosomal recessive disorder and benign condition, asymptomatic.
- Individuals does not show any ill-effects.
- Incidence is one in 2,500 births.
- Primarily in Jewish population.
- Lack Xylitol dehydrogenase leads to excretion of larger amounts of L-Xylulose
in urine.
- It is also reported after administration of drugs such as,
• Aminopyrine.
• Antipyrine
7. Glycogen storage disorders
- The metabolic defects concerned with the glycogen synthesis and degradation
are collectively called as GSD.
- All Glycogen storage disorders are Autosomal recessive disorders (except
Type-VIII)
- Incidence estimated to be between 1 in 1 lack to 1 million births per year in all
ethnic groups.
- GSD Type-VIII:
• It is an X linked recessive disorder.
• Frequency is one in 1,25,000 births.
• Enzyme deficiency is Phosphorylase kinase.\
- Clinical Features
• Hepatomegaly and fibrosis in childhood, these symptoms improve with
age and usually disappear after puberty.
• Fasting hypoglycemia (40-50 mg/dl)
• Hyperlipidemia
• Growth retardation, Growth often normalizes by adulthood as well.
• Elevated serum transaminase levels (Aspartate aminotransferase and
alanine aminotransferase > 500 units/ml)
8. Mucopolysaccharidoses
- Type I – Hurler’s syndrome – L-Iduronidase.
- Type II – Hunter’s – Iduronate sulphatase.
- Type III – Sanfilippo’s –N-Acetylglucosaminidase, Heparin sulphatase.
- Type IV – Morquio’s – Galactosamine sulphatase.
- Type V – Scheie’s – L-Iduronidase.
- Type VI – Maroteaux-Lamy’s – N-Acetyl-β-Dgalactosamino-4-sulphatase.
- Type VII – Sly’s – β-Glucuronidase.
- Symptoms:
• All mucopolysaccharidoses show skeletal deformity, corneal
clouding and corneal opacity.
• Mental retardation (except type V &VI).
• Urinary excretion of respective mucopolysaccharides (C.S, D.S, H.S
and K.S) observed.
• C.S = Chondroitin sulphate
• D.S = Dermatan sulphate
• H.S = Heparan sulphate
• K.S = Keartin sulphate.
- Wernicke-Korsakoff syndrome:
• This is a genetic disorder associated with HMP shunt.
• But it is not an inborn error.
• An alteration in transketolase activity that reduces affinity with TPP
(a Biochemical lesion).
• Symptoms are mental disorder, loss of memory and partial
paralysis.
• These symptoms manifested in chronic alcoholics, whose diets are
thiamin-deficient.