Disorders Of Very Long Chain Fatty Acids

Question 1

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

Ambiguous genitalia

Answer 1

Smith-Lemli-Opitz Syndrome

Question 2

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

Answer 2

Smith-Lemli-Opitz Syndrome

Question 3

Regression of motor activity and an abnormal startle to acoustic stimuli

Cherry red spot with optic atrophy

Deficiency of Hexosaminidase A

Answer 3

Tay-Sachs Disease

Question 4

Accumulation of GM2 Gangliosiodosis

Answer 4

Tay-Sachs Disease

Question 5

Affects non-Jewish infants

Deficiency of both Hexosaminidase A & B

Moderate hepatosplenomegaly and coarse granulstuons in bone marrow histiocytes

Answer 5

Sandhoff Disease

Question 6

Crumpled paper or crumpled tissue appearance

Answer 6

Infantile Gaucher Disease

Question 7

Deficiency of glucocerebrosidase

Oculomotor apraxia and bilateral strabismus

Hypotonia

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

Answer 7

Infantile Gaucher Disease

Question 8

Deficiency of a-galactosidase A

Foam cells in kidneys

Answer 8

Fabrys Disease

Question 9

Deficiency of Sphingomyelinase

Cherry red spot

Marked enlargement of liver

Vacuolated histiocytes (foam cells) in the bone marrow

Answer 9

Infantile Niemann-Pick Disease

Question 10

Deficinecy of Ceraminidase

Hoarse cry due to fixation of laryngeal cartilage

Periarticular and subcutaneous swellings and progressive arthropathy

Answer 10

Farber Disease or Lipogranulomatosis

Question 11

Abnomral very long chain fatty acid metabolism

Peroxisomal disorder

PIPECOLATE OXIDASE

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

Answer 11

Zellweger Disease or Cerebrohepatorenal Disease

Question 12

X-linked recessive

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

Pili torti

Deficiency in copper dependent enzymes

Floppy baby

Answer 12

Menkes Disease or Kinky-or-Steely-Hair Disease

Question 13

Defect: Arylsulfatase A deficiency

Weakness, ataxia, progressive dementia, optic atrophy

Answer 13

Metachromatic leukodystrophy

Question 14

(+) urine sulfatide test

Frontooccipital demyelination

Answer 14

Metachromatic leukodystrophy

Question 15

AR, chromosome 14

Generalized rigidity, loss of head control, diminished alertness

Globoid cell

Answer 15

Krabbe disease or Globoid Cell Leukodystrophy

Question 16

Galactocerebrosidase deficiency

Answer 16

Krabbe Disease

Question 17

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

Answer 17

Hartnup Disease

Question 18

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

Neurologic damage, cerebellar degeneration and peripheral neuropathy

Answer 18

Refsum Disease

Question 19

Coronary artery intimal thickening

Coarse facies

Thickened cardiac valves

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

Answer 19

Mucopolysaccharidoses

Question 20

A-L-iduronidase

Answer 20

Hurler Disease