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G6PDH deficency
XL recessive
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Alkaptonuria
Symptomless in childhood it produces homogentisic aciduria. An autosomal recessive condition, ochronosis develops later in life with or without arthritis
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Maple syrup urine disease
Neurological disturbances appear soon after birth. There are increased amounts of valine, isoleucine, and leucine in blood and urine, due to a defect in the metabolism of these branched chain amino-acids.
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mechanism of maple syrup urine disease?
decreased a-ketoacid dehydrogenase --> can't degrade branched aa's (Ile, Leu, Val)- buildup causes CNS defects, MR, death- "I Love Vermont maple syrup from maple trees with branches"
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Homocystinuria
- hypercoagulability and premature atherosclerosis! - also tall MR etc.
- - #1 cause is cystathionine beta sythesis - get premature atherosclerosis osteoperosis and MR - dont make cysteine
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Homocystinuria
Mental retardation, fair hair, lens dislocation.
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Galactosaemia
Causes irreversible brain damage if the diagnosis is not made early, and the child is not placed on a lactose free diet.
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Galactosaemia
- -defiency of galactose 1 phosphate uridyltransferease (vomiting)
- -treat with galactose and lactose free (if not MR)
- -Autosomal Recessive
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Galactosaemia
- Autosomal recessive
- Cataracts do occur, usually bilaterally, and are reversible.
- Galactosaemia is an important cause of prolonged jaundice in the neonate
- It is a well recognised cause of hypoglycaemia
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Gaucher's disease
B-Glucosidase deficiency
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Hexosaminidase A deficiency is associated Tay-Sachs disease.
Hexosaminidase A deficiency is associated Tay-Sachs disease.
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Sphingomyelinase deficiency is associated with Niemann-Pick disease.
Sphingomyelinase deficiency is associated with Niemann-Pick disease.
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Arylsulfatase-A deficiency is associated with metachromic leucodystrophy.
Arylsulfatase-A deficiency is associated with metachromic leucodystrophy.
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Hurler's syndrome.
A mucopolysaccharidosis, lysosomal storage disorder. Iduronidase deficiency
- coarse facial features
- skeletal and cardiac abnormalities
- hepatosplenomegaly
- physical and mental retardation.
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Hurler's syndrome
She is hirsute with thick skin and nodules over her scapula and has coxa valga. Skull x ray shows absent frontal sinuses and deformed pituitary fossa.
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