Inborn Errors of Met- Organic Acid DO Flashcards Preview

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Flashcards in Inborn Errors of Met- Organic Acid DO Deck (10)
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1
Q

Screening of IEoM measures ___ levels or tandem __ to measure quantities of __ and ___ in blood

reduced Alpha glucosidase activity

Reduced Lysosomal hydrolase activity

Phenylalanine

Citrate (2)

Hexacosanoic acid

Leucine

Methionine

Galactose

dz and next step

A

specific enzyme, mass spec, AA, acylcarnitines

GSD T2, Pompe
serum alpha-glucosidase enzyme assay

Mucopolysaccharidosis T1 (hurler)
Leuk LH assay, urine GAGs

classic PKU
plasma AA

argininosuccinic aciduria, citrullinemia type 1
plasma NH3/AA

X Linked Adrenoleukodystrophy
plasma VLCFA analysis

MSUD, plasma AA

Classic galactosemia
erythrocyte GALT activity

2
Q

Tyrosine

Acyclcarnitine C3

C5

C8 (C6/10)

C14

C16-OH

dz, next step

A

Tyrosinemia Type 1
plasma AA

Methylmalonic/propionic acidemia
urine OA, plasma acylcarn

isovaleric acidemia
same

MCAD, same

VLCAD
plasma acylcarn

LCHAD
urine OA, plasma acylcarn

3
Q

All AA disorders result from __ enzyme def preventing metabolism of __, leading to __

each AA has Different ___

MSUD- def of branched chain __
normally metabolizes L, I, V

these __
__ is most toxic to brain, resulting in ___

Infant presents w __ and __, __, poor __
if untx, H, C, D w/in hours

may have characteristic __ w urine/cerumen
Dx MSUD w elevated __
confirmed w plasma __ demonstrating elevated L, I, V, A

A

AR, specific AA, accumulation

toxicities

alpha ketoacid dehydro
Leucine, isoleucine, valine

accumulate
leucine
acute neuro sx

lethargy/irritability, seizure, poor feeding
hypertonicity, coma, death

odor of maple syrup
leucine
AA, leucine, isoleucine, valine, alloisoleucine

4
Q

PKU- def in enzyme ___, which hydroxylates __ to __

__ accumulates and is __ to brain, causing ___

infant develops __ and global __ during infancy/childhood

affected adults consuming __ develop __, __/__ probs

Dx PKU- inc ___
confirmed w measuring plasma __, demonstrating inc __

A

phenylalanine hydroxylase, phenylalanine to tyrosine

phenylalanine, toxic, permanent brain injury

microcephaly, devo delay

phenylalanine, mood do, attention/cognitive

phenylalanine
AA, phenylalanine

5
Q

Tyrosinemia
deficinecy of __ (FAH), responsible for __ of tyrosine

__ accumulates in __ and __, resulting in organ damage

Fumarylacetoacetate broken down to __, detected in __

infant presents w __, __ from progressive LD
Kidney toxicity as __ w __ and __ (from phos loss in RT)

can lead to __ and ___
Dx w inc __
confirm w plasma __ w inc __, and __ in urine

A

famarylacetoacetate hydrolase, intermediate met

FAH, liver/kidney

succynlacetone, urine

FtT, hepatomegaly
RT dysfxn, RTA, hypophos

rapid deterioration/death

tyrosine
AA, tyrosine, succinylacetone

6
Q

Homocystinuria
defective __ met leads to accumulation of __ and __

MCC is def of __ (CBS), preventing conversion of __ to ___

may result from IE of __ (VB12) synth, necessary for ___

CM- sx are ___
infants __ at birth, then get __ and mild __ in 1st yr

after 3, bcome __, __ and __ and ___

Dx- inc __, confirm w plasma __, w elevated __/__/__ and dec __

A

methionine, homocysteine/homocystine

cystathione B synthase, homocysteine to cystathione

cobalamin, methionine synthase

variable
normal, FtT, developmental delay

tall, arachnodactyly, ectopia lentis, TE events

methionine, AA
methionine, homocysteine/homocystine
cystathione

7
Q

Urea cycle metabolizes __ from deamination of ___

Most Inheritance ___
Exception is __ def, which is __ (assc w __ &__ def)

Infants present w __, __, __ and __

as __ worsens, __ develops, resulting in __/_

most severe defects in __ def
boys w parial enzyme def may develop __ and mild elevations of __

Dx with inc __, suggesting __ (ASS def)
or ___ acidura (AS def)

others w inc __, confirm w plasma__ and urine __

A

ammonia, AA

AR
Ornithine transcarbamylase, XL
partial/complete

AMS, lethargy, poor feeding, vomiting

hyperammonemia, cerebral edema, coma/death

complete OTC def
mild sx, ammonia

citrulline, citrullinemia
argininosuccinic

ammonia, AA, orotic acid

8
Q

OTC def

ASS def (Citrullinemia)

ASL def (argininosuccinic aciduria)

Arginine
Citrulline
Argininosuccinic Acid
Urine Orotic acid

A

Dec, dec, dec, inc

dec, inc, dec, inc

dec, inc, inc, inc

9
Q

OA disorders
AA breakdown req __ to degrade protein byprodcts
enzymes responsible for __ breakdown also essential for __ degredation

elevation of plasma __ acylcarnitines also occurs

__ defects in degredation enzymes result in accumulation of __ in blood

Infant presents __, __ and __
progress to __, and __/__

lab shows __, w high __ and __
may have inc __/__ or __

odor of __ may be assc w __

A

several enzymes
OA, short chain FA

short odd chain

AR, OA

lethargy, vomiting, FtT
hypotonia, seizure/coma

Met acid, AGAP, ketosis
lactate, hyperammonemia, hypoGly

sweaty feet, isovaleric acidemia

10
Q

Dx of OA disorders
detect inc ___ (MA/PA) or __ (IA)
confirm w measuring urine __ and plasma __

Methylmalonic acidemia

Proprionic acidemia

Isovaleric acidemia

Enzyme def, urine OA, plasma acylcarnitines

A

C3 acylcarnitine, C5 acyl
OA, acylcarnitines

methylmalonyl CoA mutase
MA/PA, inc C3

Propionyl CoA carboxylase, PA, inc C3

isovaleryl CoA Dehydro, I3HIA, inc C5