Newborn Screening Flashcards
PKU ?inherit Defect? Incidence? Features?
AR Chrom 12
PAH (phenylalanine hydroxylase) def leads to build up phenylalanine, can’t make tyrosine, incr phenyl pyruvate (detect in urine)
Albinism, musty, Sz, intellectual disab,
1:10 000 (Turkey is 1:2600)
MSUD ?inherit Defect? Incidence? Features?
AR
Def of branched chain alpha ketoacid dehydrogenase
1:180 000 (Amish, Jewish)
Causes increased LEUCINE, isoleucine, valine and toxic ketoacids in blood/urine
Hypoglycaemia,ketoacidosis,pancreatitis, ds and vs, poor feeding, dehydration, Sz
Fatty acid ox dis ?inherit Defect? Incidence? Features?
AR
Unable to metabolise fat as energy
Fatty acid accumulation
Muscle weakness, non-ketotic hypoglycaemia, CHF, lethargy, irritability, poor appetite, fever, nausea
CF ?inherit Defect? Incidence? Features?
AR
1:2500
CFTR delta F508 most common Chrom 7
See summary of types of defects
Congen hypothyroidism ?inherit Defect? Incidence? Features?
1:4000
TSH level only in NZ - misses hypopit hypothyroidism
Biotinidase def (B7) ?inherit Defect? Incidence? Features?
AR
Inability to use biotin (needed for metab by carboxylases of CHO, fats, proteins (leucine, isoleucine, proteins cannot be broken down)
1:130 000
Behav dis, learning delays, hypotonia, Sz, reduced co-ordination, optic atrophy,
Galactosaemia ?inherit Defect? Incidence? Features?
AR
Unable to metab galactose (lactose goes to gluc and galactose) for glycogenesis
Incr galactose phosphate/sugar alcohols
1:60 000 (Irish travellers)
Lethargy, FTT, jaundice, vomiting, hepatomegaly, hepatitis, cirrhosis, RF, CATARACTS
Mort 75% with no Rx
How many disorders and what broad groups?
28rare metabolic disorders 14 AA including PKU, MSUD Galactosaemia, biotinidase def 9 FAOD CF CAH (21alpha hydrox def - incr 170Hprog) Congen hypothyroidism
Cutis marmorata
Marbling which can be a sign of cortisol def
condition where the skin has a pinkish blue mottled or marbled appearance when subjected to cold temperatures. occurs 50% of children and is typically seen throughout infancy. Adults may also be affected. Rewarming usually restores the skin to its normal appearance.
