Inborn Errors of Metabolism Handout Flashcards Preview

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Flashcards in Inborn Errors of Metabolism Handout Deck (31)
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1
Q

MCAD ethnic

A

Northern european

2
Q

MCAD clinical presentation

A

Develop normally until prolonged fast (often with illness)
Develop hypoketotic hypoglycemia
Presents with altered mental status and lethargy

3
Q

Diagnosis of MCAD

A

Screening
Lab eval will reveal non-ketotic hypoglycemia
C6-C10 acylcarnitines

4
Q

Management of MCAD

A

Avoid fasting

5
Q

VLCAD def

A

Similar to MCAD with fat deposition into organs
Hepatomegaly and liver dysfunction, cardiomyopathy, muscle weakness
C14-C16 acylcarnitines
Restrict dietary fats AND avoid fasting…supplement with medium chain

6
Q

Clinical manifestations of organic acid disorders

A

Lethargy, vomiting, and failure to thrive
As progession, hypotonia, seizures, and coma
Metabolic acidosis with high anion gap and ketosis
Could also have elevated lactate, hyperammonemia, and/or hypoglycemia

7
Q

Diagnosis of organic acid disorders

A

Most by screening but could develop after

8
Q

Propionic acidemia

A

Defect in propionyl-CoA carboxylase leads to defect in Ile, Val, Met, and Thr metabolism
Measure urine for propionic acid
Stop all protein intake and administer dextrose

9
Q

Methylmalonic acidemia

A

Methylmalonic acid AND propionic acid in the urine
Adminster Dextrose and stop protein
Vitamin B12 as supplemnt

10
Q

PKU clinical manifestation

A

Microcephaly and developmental delay

Adults may have risk of mood disorders or cog dysfunction

11
Q

PKU diagnosis

A

Usually screening…see increase in Phe

12
Q

Management of PKU

A

Administer BH4 (cofactor)…limit Phe intake

13
Q

MSUD clinical

A

Lethargy and irritability, seizures and poor feeding…hypertonicity

14
Q

Diagnosis of MSUD

A

Measurement of plasma AAs show elevated Leu, Ile, and Val (alo alloisoleucine)
typically screened but could develop after

15
Q

Managment of MSUD

A

Stop all protein intake and administer dextrose

Long term is to administer thiamine and limit

16
Q

Tyrosinemia 1 clinical

A

Failure to thirive and hepatomegaly

Kidney toxicity from renal tubular dysfunction presenting as renal tubular acidosis and hypophosphatemia

17
Q

Diagnosis of tyrosinemia 1

A

Typically screened
Elevated tyrosine and methionine
Also elevated succinylacetone

18
Q

Managment of tyrosinemia 1

A

Reduce met, tyr, and phe

Nitisinone inhibits a dioxygenase whcih decreases generation of toxic fumarylacetoacetate

19
Q

GSD type 1 enzyme, clinical, labs

A

G-6-pase
Hepatomegaly with failure to thrive
Severe hypoglycemia

20
Q

GSD type 3 enzyme, clinical, labs

A

Debranching enzyme
Hepatomegalym, failure to thrive, muscle weakness, hypotonia
Mild hypoglycemia

21
Q

GSD type 4 enzyme clinical labs

A

Branching enzyme
Liver failure
Hypoglycemia occurs late

22
Q

GSD Type 6 enzyme clinical labs

A

Hepatic phosphorylase
Hepatomaegaly and failure to thrive
Mild hypoglycemia

23
Q

Diagnosis of GSDs

A

Look for hypoglycemia with hypertrigluceridemia, lactic acidosis and hepatomegaly…DNA testing to confirm

24
Q

Management of GSDs

A

Maintain glucose levels to prevent hypglycemia…uncooked corn starch

Anderson has no therapy and need liver transplant

25
Q

Galactosemia inheritance

A

Auto rec

26
Q

Galactosemia clincal

A
After breast feeding 
Jaundice, poor feeding, and vomiting 
Hepatomegaly 
Cataracts 
Hyperbilirubinemia, abnormal liver function, reducing substances in urine 
Ketones absent
27
Q

Galactosemia diagnosis

A

Newborn screening but may develop after weeks

MEasure GALT activity

28
Q

Management of galactosemia

A

Eliminate galactose…soy-based formulas

29
Q

Hereditary fructose intolerance clinical

A

Recurrent vomiting and poor feeding after intor of fructose or sucrose into diet
Lethargy and seizures
Hepatomegaly, jaundice and renal dysfunction
Hypoglycemia, hyperuricemia, metabolic acidosis and/or lactic acidosis reducing substances in urine …ketones absent or normal

30
Q

Diangosis of hereditary fructose intolernace

A

DNA testing

31
Q

Managment of hereditary fructose intolerance

A

Eliminate fructose from diet