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Genetics- Metabolic
for board studying
43
Medical
Professional
02/14/2013

Additional Medical Flashcards

 


 

Cards

Term
hurler's syndrome deficient enzyme
Definition
alpha-L-iduronidase
Term
hunter's syndrome deficient enzyme
Definition
iduronate sulfatase
Term
in Sanfilippo urine may have increased what
Definition
heparan sulfate
Term
features of morquio syndrome
Definition
skeletal involvement, corneal clouding, normal intelligence
Term
in which MPS disorders do you see corneal clouding
Definition
Hurler's and Morquio
Term
4 elevated lab findings in GSD type 1
Definition
triglycerides, cholesterol, lactic acid, uric acid
Term
gsd type 1 due to a deficiency of
Definition
hepatic glucose-6-phosphatase
Term
familal hypercholesterolemia is due to deficiency of what
Definition
LDL receptors
Term
features of Farber's disease
Definition
skin nodules and painful joints in first week of life, cherry red spot on retina (think Farmer's picking cherries)
Term
Hallmark feature of Wolman disease
Definition
calcified and enlarged adrenal glands
Term
low ceruloplasm levels can be seen in what 2 genetic diseases
Definition

Menkes Kinky Hair syndrome

and

Wilson's disease

Term
in a child presenting with organomegaly, bone pain, easy bruisibility, and short stature you should think
Definition
Gaucher disease
Term
infantile Gaucher disease due to deficiency of what enzyme
Definition
beta glucosidase
Term
Tay Sachs disease due to a deficiency of what enzyme
Definition
hexosaminidase A
Term
features of Tay Sachs Disease
Definition
normal development through first 9 months of life, exagerrated startle reflex, cherry red spot on retina, macrocephaly
Term
which disease have cherry red spots?
Definition

Niemann-Pick disease

Tay Sachs

Infantile Gaucher

Term

which diseases have cherry red spots and hepatosplenomegaly?

 

Definition

Niemann-Pick Disease

Infantile Gaucher

 

(Tay Sach's does not have organomegaly)

Term
Besides PKU, what can cause the presence of elevated serum phenylalanine levels on nbs?
Definition

tetrahydrobipterin (BH4) deficiency (1-3% of cases)

or it can be transient (so repeat test before making diagnosis!)

Term
at what ammonia level do you need benzoate and phenylacetate therapy (medical therapy)
Definition
>200
Term
at what ammonia level is dialysis indicated?
Definition
>600
Term
what metabolic disorders present with metabolic acidosis and elevated ammonia
Definition

propionic acidemia

methylmalonic acidemia

fatty acid oxidation defects

Term
what metabolic disorders typically present with metabolic acidosis and normal ammonia
Definition
msud, some organic acidemias
Term
what metabolic disorders typically present with elevated ammonia without metabolic acidosis
Definition

urea cycle defect

transient hyperammonemia

Term
what metabolic disorders typically present with normal ammonia and no metabolic acidosis
Definition

aminoacidopathy

galactosemia (unless patient is septic)

non-ketotic hyperglycinemia

Term
odor of sweaty feet goes with what metabolic disorder
Definition
isovaleric acidemia
Term
methylmalonic acidemia may respond to what med
Definition
vitamin b12
Term
in a patient with hypoglycemia and no reducing substances or ketones in urine and normal serum amino acids- what metabolic disorder should you think of
Definition
fatty acid oxidation disorder
Term
what lab finding rules out a urea cylce defect (when hyperammonemia is present)
Definition
ketonuria
Term
galactosemia is from deficiency in what
Definition

Galactose-1-phosphate uridyltransferase (GALT)

(measured in RBCs)

Term
when positive reducing substances is mentioned you should think
Definition
galactosemia
Term
what should you think when hypoglycemia can be remedied with an injection of glucagon
Definition
hyperinsulinism
Term
in Beckwith-Wiedemann syndrome, the hypoglycemia is due to what
Definition
islet cell hyperplasia
Term
what is the drug of choice in refractory hypoglycemia in infants
Definition
diazoxide
Term
the most important measurement to determine the etiology of hypoglycemia in infants is what (2)
Definition
urine ketones and urine reducing substances
Term
what is found in the urine in alkaptonuria
Definition
homogentisic acid
Term
how is alkaptonuria treated?
Definition
diet low in phenylalanine and tyrosine
Term
homocystinuria is due to deficiency of what
Definition
cystathionine synthase (results in elevated levels of methionine)
Term
how is homocysteinuria treated
Definition

pyridoxine if responsive

if not, diet high in cystine and low in methionine

Term
in marfan's syndrome the lens displacement is anterior or posterior?
Definition
anterior lens displacement
Term
in homocysteinuria the lens displacement is anterior or posterior
Definition
posterior lens displacement
Term

1. features of oculocutaneous tyrosinemia

2. how do you treat it?

Definition

1. corneal ulcerations, plaques, and eventually clouding

skin thickening on palms and soles

2. low tyrosine and phenylalanine diet

Term
mousy odor is associated with
Definition
PKU
Term
A child with PKU who is overtreated will have what kinds of problems
Definition
lethargy, rash, diarrhea
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