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Metabolics
2/26/2019
ABP breakdown
Which of the following findings is most likely to be identified upon further evaluation of this patient?
B. Hyperammonemia
E. Hyperuricemia
ANSWER:
C. ELEVATED LEVELS OF PHENYLALANINE
PKU
(phenylketonuria)
• Autosomal recessive disorder
• Absence (or near absence) of
phenylalanine hydroxylase
• Phenylalanine accumulates in the serum
and is converted to phenylpyruvate
(musty odor)
• Typical characteristics: blonde hair, blue
eyes, lightly pigmented skin, eczema
• Newborn screening detects high
phenylalanine levels and low tyrosine
levels
Treatment of PKU
Dietary restrictions are hard (phenylalanine containing food: meat, chicken, fish,
breads, nuts, cheeses, dietary foods, soft drinks)
A 30-month-old developmentally delayed boy is noted to have recently
experienced further neurologic deterioration in association with the
development of communicating hydrocephalus. He is in the 5th percentile for
height and has coarse facial features, a prominent forehead, and
hypertelorism. Hepatosplenomegaly and generalized joint stiffness are also
present.
Which of the following complications is most likely to occur as this patient grows older?
C. Myocardial hypertrophy
E. Pancreatic insufficiency
ANSWER:
C. MYOCARDIAL HYPERTROPHY
• X-linked disorder (aka
mucopolysaccharidosis (MPS)
Type 2) deficiency of
Hunter lysosomal enzymes
Syndrome • Deficiency of iduronate 2-
sulfatase (IDS)
• Low IDS levels lead to increase
in degraded GAGs
(glycosaminoglycans) causing
thickening in tissue, affecting
brain, bones, heart, lungs, liver,
and spleen.
• Clinical findings: short stature,
multiple skeletal deformities,
joint stiffness, thickened skin,
hypertelorism, and coarse facial
features.
You are asked by a colleague to review the course of a child of Louisiana Cajun descent, who
was apparently normal until 6 months of age. Exam at that time was only remarkable for an
exaggerated startle response. From that date, she started to show lack of normal
development, increasing muscle weakness, and hearing loss. Concerns have recently been
raised about her vision as well.
On examination at the age of 11 months, the child is unable to sit unsupported. Her exam
also shows the development of a cherry red spot on fundoscopic exam.
Which of the following tests is most likely to be abnormal upon further evaluation of this patient?
• Mucopolysaccharidosis type 1
• Autosomal recessive – deficient
activity of lysosomal enzyme α-L-
iduronidase.
• Affected infants appear normal at
birth; during the first year of life, they
develop coarse facial features,
flattened midface, skeletal
abnormalities, developmental delay
• Also develop corneal clouding,
deafness, frequent sinus/pulmonary
infections, cardiac abnormalities
• Poor prognosis – average age at
death is 5 years