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My board review cards > Genetics & metabolism > Flashcards

Genetics & metabolism Flashcards

1
Q

Menke disease
vs.
Moubis dynrome

A

Twisted, fractured hair (kinky hair), wormian bones, cerebral deterioration, saggy lips, joint laxity. –> copper transport
x-link recessive.

Moubis: 6th, 7th cranial nerve palsy, mental deficiency.

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2
Q

Dwarfism: what gene and what inheritance pattern

A

FGFR3 mutation

Autosomal dominent
but A LOT de novo

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3
Q

Most inborn errors of metabolism follows what inheritance pattern

Give an exception

A

autosomal recessive.

Exception:
Ornithine carbamyl transferase (also most common)
(high urine orotic aice, high glutamine/alanine. low citrulline and arginine) –> Urea cycle defect
THIS IS X-Link Recessive

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4
Q

x-linked disorders among inborn errors of metabolism

A

OTC deficiency
X-linked ALD
Hunter Syndrome

x-linked, not inborn errors of metabolism:
incontinentia pigmenti

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5
Q

For each of the following group of disorder, give the basic presentation

  • Fatty Acid Oxidation Disorders
  • Organic Acidemia
  • Aminoacidopathy
  • Urea Cycle Disorders
A
  • Fatty Acid Oxidation Disorders
    Hypoketotic hypoglycemic
  • Organic Acidemias
    Metabolic acidosis with anion gap
  • Aminoacidopahties
    No acidosis or hyperammonemia
  • Urea Cycle Disorders
    Hyperammonemia without acidosis.
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6
Q

Organic Acidemias

A

Metabolic acidosis with anion gap
Urine Ketone

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7
Q

plasma lactate is elevated in what

A

mitochondrial disease
glycogen storage disease 1 A

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8
Q

Plasma Amino Acids can help with what disorders?

A

PKU
MSUD
Urea Cycle Disorders

amino aciodpahties

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9
Q

Urine Organic Acids
helps diagnose what disorders

A

Mehtymalonic Acidemia
Propionic Acidemia
Isovaleric Acidemia

Organic Acidemia

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10
Q

Plasma Acylcarnitine and Carnitine can pick up a lot of disorders

A
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11
Q

Tandem Mass Spectroscopy is used for NBS

A
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12
Q

is OTC screened on NBS

A

no

(neither is cholesterol disorder)

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13
Q

PKU (Phenylketonuria)

A

This is amino and organic acidopathies.

autosomal recessive

metabolism of Phenylalanine (no phenylealanine hydroxylase -> classic type.
Hence: cannot convert from phenyalanine to Tyrosine.

mousy urine order or musty urine order.

elevated:
Phenyalanine
AND Phe/Tyr ratio

no symptoms in newborn period

if mom has PKU and cannot control diet, elevated phenylalanine is teratogenic (microcephaly, IUGR, intellectual disability, congenital heart disease)

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14
Q

MSUD

A

autosomal recessive

elevated Leucine, Valine, isoleucine.
(Leucine toxic to brain. )

branched chain ketoacid dehydrogenase deficiency.
> elevated ketones in urine

– Poor feeding, lethargy, coma, apnea.
Can present BEFORE NBS

maple odor.

Hypoglycemia and hyperammonemia UNUSUAL
very HIGH urine Ketone.

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15
Q

Transient Tyrosinemia of the Newborn

A

elevated Tyrosinemia but no succinylacetone in urine.

Type 1 tryosinemia is autosomal recessive and has succinylacetone in urine.

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16
Q

Nonketotic Hyperglycinemia

A

measure CSF/Plasma glycine
hiccups, seizure, myoclonus.

17
Q

Propionic Acidemia

A

This is organic acidemia

Defect in propionyl CoA Carboxylase.

Autosomal recessive.

severe, lethargy, coma, neutropenia, thrombocytopenia.

METABOLIC ACIDOSIS, ANION GAP, HYPERAMMONEMIA

18
Q

why carnitine for organic acidemias

A

Carnitine becomes covalently bound to the organic
acid and facilitates excretion in urine.

Carnitine needed for fatty acid oxidation of long chain fats

19
Q

Methylmalonic Acidemia

A

AR
methylmalonylCoA Mutase

neonatal onset, lerthargy, coma

metabolic acidosis, anion gap
hyperammonemia, hyperglycinemia

neutropenia, thrombocytopenia,

Treatment: Diet, carnitine, B12,

if mom has vegan diet and low B12, baby will screen positive.

20
Q

Ornithine Transcarbamylase Deficiency (OTC)

IMPORTANT

A

X-link
Male severe.
(female can have milder form)
classic urea cycle.

normal for 24-48 hours. then poor feeding, grunting, lethargy, coma, cerebral edema.

Orotic acid elevates in urine

21
Q

Citrullinemia in Urea cycle defect

A

argininosuccinate synthase or argininosuccinit lyase deficiency.

Brittle hair, hyepr-ammonia
very high citrulline, orotic aciduria

need to supplement arginine.

22
Q

Arginase deficiency -> Argininemia

A

AR,
can have neonatal hyperammonemia.
But often with Spastic Quadriplegia, delay milstone.
orotic aciduria.

23
Q

How to tell difference between OTC deficiency and CPS deficiency

A

Orotic acid high –> OTC deficiency
Orotic Acid low (and low Citrulline) –> CPS deficiency
(carbamyl phosphatate synthase deficiency)

24
Q

know slight 67-68 (genetic 1)

A
25
Q

Neonate with liver failure: ddx

A

Tyrosinemia Type 1
Classic Galactosemia
HFI (Hereditary Fructose Intolerance)

26
Q

Mucopolysaccharidosis I (MPS Type 1)

A

Lysosomal Storage Disease

Hurler, Hurler-Schei, Schei

autosomal recessive,
alpha-L-Iduronidase deficiency (cannot break down glycosaminoglycans)

normal at birth, but has coarse facial features, hepatosplenomegaly, dysostosis multiplex, corneal clouding.

27
Q

which has corneal clouding

A

Hurler syndrome

NOT Hunter

Both are lysosomal storage disease

28
Q

Myotonic Dystrophy

A

CGT repeat, and severity classification

29
Q

22q11.2 Deletion

DiGeorge
Velocardiofacial syndrome

A

Conotruncal defect in DiGeorge

ToF, Interrupted aortic arch, +/- Truncus in Velocardiofacial syndrome.

30
Q

Fanconie Anemia

A

Prenatal/postnatal short stature
 Microcephaly
 Hypoplastic
thumb/radius
 GU anomalies
 Hyper or
hypopigmentation
 Eye anomalies
 GU anomalies

AR (19 genes), AD (one gene), one X-linked.

Genomic instability syndrome associated with congenital abnortmalities, bone marrow failure, cancer predisoposition

can be associated with VACTERL (won’t test)

31
Q

enzyme deficiency in Type I glycogen storage disease and Type II

A

Type I:
Glucose-6-Phosphatase
(liver, kidney, GI, metabolic acidosis and hypoglycemia)

Type II: Pompe
Lysosomal alpha-glucosidase
cardiomegaly, CNS.

32
Q

hypoketotic, hypoglycemic crisis

A

fatty acid oxidation disorder

CPK and Uric acid are often elevated

33
Q

cataract, hepatomegaly,
poorly breast feed baby
Dx
what enzyme deficient

A

Galactesemia

Galactose-1-phosphate uridyltransferase (GALT)

34
Q

hypotonia, high forhead, flat orbital bridge, flate nasal bridge, hepatomegaly, calcifcation in poplteal area

A

zellweger syndrome
(cerebro-hepato-renal syndrome)

very long chain fatty acid accumulation

hepatic and renal peroxisome issue

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