Autosomal recessive conditions Flashcards
1
Q
Phenylketonuria
A
PKU
- inborn error of metabolism involving impaired metabolism of phenylalanine
- caused by deficits in phenylalanine hydroxylase
- causes phenylalanine to build up
2
Q
Symptoms of PKU
A
- microcephaly
- hypopigmentation
- language delay
- severe LD
- hyperactivitiy
- self-injury
- seziures
- musty odour in skin
3
Q
Management of PKU
A
-restricting diet
4
Q
Hurler syndrome
A
- deficiency of alpha-L iduronidase
- causes an accumulation of glycosaminoglycans
5
Q
Features of Hurlers
A
- short
- hepatosplenomegaly
- unique facial features
- developmental delay is evident by the end of the first year
- affected individuals stop developing between the ages of 2 and 4
- death is frequently before the age of 10
6
Q
Safillipo disease
A
- due to disorders of the breakdown of heparan sulphate
- incidence of 1/70,000
- poor prognosis (10-20 years old)
7
Q
Sanfillipo characteristics
A
- severe LD
- claw hand
- dwarfism
- hypertrichosis
- hearing loss
- hepatosplenomegaly
- biconvex lumbar vertebrae
- joint stiffness
8
Q
Behaviour problems in safillipo
A
- restlessness
- sleep problems
- challenging behaviour
9
Q
Laurence-Moon -Biedl syndrome
A
-associated with multiple loci (11q13,11q21, 15q22, 3p13)
10
Q
Laurence-Moon -Biedl syndrome features
A
- retinitis pigmentosa
- extra digits (polydactyly)
- spastic paraplegia
- nightblindness
- hypogonadism
- NIDDM
- renal roblems
- mild to moderate LD
