Paeds metabolic

AR

XL recessive

Symptomless in childhood it produces homogentisic aciduria. An autosomal recessive condition, ochronosis develops later in life with or without arthritis

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.

 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"

• hypercoagulability and premature atherosclerosis! - also tall MR etc.
• - #1 cause is cystathionine beta sythesis - get premature atherosclerosis osteoperosis and MR - dont make cysteine

Mental retardation, fair hair, lens dislocation.

Causes irreversible brain damage if the diagnosis is not made early, and the child is not placed on a lactose free diet.

• -defiency of galactose 1 phosphate uridyltransferease (vomiting)
• -treat with galactose and lactose free (if not MR)
• -Autosomal Recessive

• 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

B-Glucosidase deficiency

Hexosaminidase A deficiency is associated Tay-Sachs disease.

Sphingomyelinase deficiency is associated with Niemann-Pick disease.

Arylsulfatase-A deficiency is associated with metachromic leucodystrophy.

A mucopolysaccharidosis, lysosomal storage disorder. Iduronidase deficiency

• coarse facial features
• skeletal and cardiac abnormalities
• hepatosplenomegaly
• physical and mental retardation.

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.