Disorders Of Very Long Chain Fatty Acids Flashcards Preview

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Flashcards in Disorders Of Very Long Chain Fatty Acids Deck (20)
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1
Q

Characterized by pre and postnatal growth retardation, MR, facial dysmorphic features, hypospadias, syncdactylt between toes 2 & 3

Ambiguous genitalia

A

Smith-Lemli-Opitz Syndrome

2
Q

Mutations in the sterol delta-7-reductase gene (DHCR7)

A

Smith-Lemli-Opitz Syndrome

3
Q

Regression of motor activity and an abnormal startle to acoustic stimuli

Cherry red spot with optic atrophy

Deficiency of Hexosaminidase A

A

Tay-Sachs Disease

4
Q

Accumulation of GM2 Gangliosiodosis

A

Tay-Sachs Disease

5
Q

Affects non-Jewish infants

Deficiency of both Hexosaminidase A & B

Moderate hepatosplenomegaly and coarse granulstuons in bone marrow histiocytes

A

Sandhoff Disease

6
Q

Crumpled paper or crumpled tissue appearance

A

Infantile Gaucher Disease

7
Q

Deficiency of glucocerebrosidase

Oculomotor apraxia and bilateral strabismus

Hypotonia

Histiocytes (Gaucher cells) in marrow smears and liver and spleen biopsies

A

Infantile Gaucher Disease

8
Q

Deficiency of a-galactosidase A

Foam cells in kidneys

A

Fabrys Disease

9
Q

Deficiency of Sphingomyelinase

Cherry red spot

Marked enlargement of liver

Vacuolated histiocytes (foam cells) in the bone marrow

A

Infantile Niemann-Pick Disease

10
Q

Deficinecy of Ceraminidase

Hoarse cry due to fixation of laryngeal cartilage

Periarticular and subcutaneous swellings and progressive arthropathy

A

Farber Disease or Lipogranulomatosis

11
Q

Abnomral very long chain fatty acid metabolism

Peroxisomal disorder

PIPECOLATE OXIDASE

Manifests at birth, IUGR, developmentsl delay, limb contractures, hepatomegaly, floppy baby, abnormal facies

A

Zellweger Disease or Cerebrohepatorenal Disease

12
Q

X-linked recessive

Poor feeding and failure to gain weight, hypothermia, seizures, hypotonia

Pili torti

Deficiency in copper dependent enzymes

Floppy baby

A

Menkes Disease or Kinky-or-Steely-Hair Disease

13
Q

Defect: Arylsulfatase A deficiency

Weakness, ataxia, progressive dementia, optic atrophy

A

Metachromatic leukodystrophy

14
Q

(+) urine sulfatide test

Frontooccipital demyelination

A

Metachromatic leukodystrophy

15
Q

AR, chromosome 14

Generalized rigidity, loss of head control, diminished alertness

Globoid cell

A

Krabbe disease or Globoid Cell Leukodystrophy

16
Q

Galactocerebrosidase deficiency

A

Krabbe Disease

17
Q

AR

Intermittent red, scaly rash over the face, neck, hands and legs, resembling that of pellagra (disrrhea, dermatitis, dementia)

Episodic cerebellar ataxia

Attacks of disease are triggered by exposure to sunlight, emotional stress and sulfonamide drugs

A

Hartnup Disease

18
Q

Deficiency of phytanoyl-coA hydroxylase (chromosome 10) or peroxin-7 (chromosome 6)

Neurologic damage, cerebellar degeneration and peripheral neuropathy

A

Refsum Disease

19
Q

Coronary artery intimal thickening

Coarse facies

Thickened cardiac valves

Inheritable storage diseases caused by deficiency of lysosomal enzyme that degrades glycosaminoglycans

A

Mucopolysaccharidoses

20
Q

A-L-iduronidase

A

Hurler Disease