congenital problems

Question 1

Presents at birth as a “floppy baby”

Answer 1

Werdnig-Hoffman

congenital degeneration of anterior horns of the spinal cord

LMN lesions only

AR inheritance

Question 2

McArdle

Answer 2

deficiency in muscle glycogen phosphorylase

pts will appear well bt have fatigue and soreness when exercising because they are unable to utilize stored glycogen while exercising.

Question 3

Pompe Disease

Answer 3

Deficiency in 1,4- glucosidase

pts present in infancy with decreased muscle tone, failure to thrive and cardiomegaly dt feeding difficulties

PomPe trashes the PumP (1,4)

Question 4

Von Gierkie

Answer 4

G6P deficiency.

Pts present with severe fasting hypoglycemia because of impaired glycolysis and gluconeogenesis.

Pts will also have significant metabolic acidosis with a build up of G6P.

Question 5

Hers Disease

Answer 5

deficiency in liver phosphorylase.

pts present with failure to thrive, hypoglycemia, ketosis, and hepatomegaly

Question 6

excess homocysteine

Answer 6

Homocystinuria

homocysteine in urine, osteoperosis, marfanoid habitus, ocular changes, cardiovascular effects (stroke and MI) kyphosis, intellectual disability

due to cystathionine synthase deficiency or methionine synthase deficiency

Question 7

musty body odor

Answer 7

Phenylketonuria

deficiency in phenylalanine hydroxylase or tetrahydrobiopterin

tyrosine becomes an essential amino acid

s/s: intellectual disability, growth retardation, seizures, fair skin, eczema, musty body odor

maternal PKU will lead to microcephaly, intellectual disability, growth retardation, congenital heart defects

pt. should avoid artificial sweetener

Question 8

Fragile X

Answer 8

Fragile X is a dominant X-linked mutation that affects the methylation and expression of the FMR1 gene

CGG repeats

patient will present with mental retardation and autistic-like behaviors such as hand flappng and avoidance of eye contact. Characteristic features include a long face with large ears, prominent jaw, hypotonia, micropenis, and machroorchidism

Question 9

Kallmann syndrome

Answer 9

Kallmann syndrome results from a lack of embryonic migration of the olfacory bulb cells to the hypothalamus and results in the lack of puberty development, lack of secondary sex characteristics, and a decreased sense of smell.

hypogonadotropic hypogonadism that results from a deficiency of GnRH from the hypothalamus

delayed pubertal development and anosmia

low testosterone, LH, and FSH