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Overview of Recessive Inheritance Syndromes and Metabolic Disorders

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This course material covers key metabolic problems associated with various recessive inheritance syndromes, including Phenylketonuria, Galactosemia, Tay-Sachs Disease, and Hurler syndrome, among others. Each syndrome is presented with its genetic basis, common symptoms, potential complications, and recommended treatments. Students will learn the importance of early diagnosis and dietary management to prevent severe disabilities associated with these metabolic disorders. Understanding these conditions is crucial for healthcare professionals working with affected individuals.

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Overview of Recessive Inheritance Syndromes and Metabolic Disorders

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  1. P020ADevelopmental Disabilities Mrs. Elizabeth Keele, RN

  2. Course Objective #23 • Identify the metabolic problem and the resulting presentation in each of the following recessive inheritance syndromes: • Phenylketonuria • Galactosemia • Tay-Sachs Disease • Hurler Syndrome • Lesch-Nyhan Syndrome • Gaucher’s disease • Neimann-Pick Disease • Wilson’s Disease • Cretinism

  3. Phenylketonuria • AKA: • PKU • Gene on chromosome 12 • maybe 4 & 11 • Most common inborn error of metabolism • Incidence • 1:10,000 in USA • carrier 1:50

  4. Phenylketonuria • Cannot breakdown phenylalanine  • hphenylalanine  • toxic to CNS • Screening test • Guthrie test • Screening timeline • After first 24 hrs. or before 7-14 days

  5. PhenylketonuriaCommon Features • Appear • 7-10 days after birth • ID • if not treated early • Blond & fair • Musty odor • Microcephaly

  6. PhenylketonuriaCommon Problems • Vomiting • Irritability • Dry skin / Rash • Seizures

  7. PhenylketonuriaCommon Problems • “Maternal PKU”

  8. PhenylketonuriaCommon Problems • If noncompliant with diet • lower IQ • Learning disabilities • behavior problems • Tremors • Eczema • Impaired communication

  9. PhenylketonuriaCommon Treatment • TREATABLE!!!! • Low-protein /phenylalanine diet • Monitor blood phenylalanine levels • Skin care • Symptom tx

  10. PhenylketonuriaCommon Treatment • Prevent maternal PKU by • adhering to diet • three months before/during pregnancy

  11. Galactosemia • Chromosome 9 • Missing liver enzyme • can’t digest milk-products • Galactose • Incidence • 1:20,000-1:60,000 live births

  12. Glactosemia - Pathophysiology • If an infant with galactosemia is given milk, • Galactose • Toxic levels • Damage • Liver • Brain • Kidneys • Eyes

  13. GalactosemiaCommon Features • S&S appear quickly • Vomiting • Jaundice • Lethargy • Irritability • Seizures • ID is preventable • S&S may be due • E. coli.

  14. GalactosemiaCommon Problems • Severe ID • Aminoaciduria • Amino acids in blood • Hepatomegaly • Enlarged liver • Ascites • Hypoglycemia

  15. If not treated… • Cataracts • Cirrhosis of the liver • Death • Delayed speech • i ovarian failure • Intellectual disability • E. coli sepsis • Tremors and uncontrollable motor functions

  16. GalactosemiaCommon Treatment • Galactose-free diet • life-long • Calcium supplements

  17. Tay-Sach’s Disease • Chromosome 15 • Incidence: • 1:30 Jews • 1:270 general population

  18. TaySach’s • Body lacks Hexosamindase A • hGanglioside • Nerve and brain cell destruction  • Deathmosis

  19. Tay-Sach’sDiseaseCommon Features • Appear • about 3-6 months • Deaf & blind • i muscle tone • Irritable • Paralysis • Seizure

  20. Tay-Sach’sDiseaseCommon Problems • No cure or treatment • Death by 5 yrs

  21. Tay-Sach’sDiseaseCommon Treatment • Supportive care • Grief counseling

  22. Hurler’s Syndrome • AKA: • Gargoylism • Hunter’s • Cannot breakdown sugar molecule • Glycosaminoglycans

  23. Hurler’s SyndromeCommon Features • hMuccopolysaccharides/Glycosaminoglycans • Symptoms appear • “Normal” birth • @ 2 yrs

  24. Hurler’s SyndromeCommon Features • Claw hand • i growth • Heart valve problems • Joint Disease • Thick, coarse facial features • ID - progressive

  25. Hurler’s SyndromeCommon Problems • Dwarfism & kyphosis • Deaf • Corneal clouding • Cardiac • ID

  26. Hurler’s Syndrome-Common Treatment • Supportive care • Prognosis • Poor

  27. Lesch-Nyhan Syndrome • AKA • Hyperuricemia • Lip-Biting Syndrome • X-linked recessive • Incidence • 1:100,000 males

  28. Lesch-Nyhan Syndrome • Lack enzyme needed to recycle purines  • h uric acid • S&S appear • by 3-6 months

  29. Lesch-Nyhan Syndrome- Common Features • h uric acid level • Progressive ID • Compulsive, self-destructive behavior

  30. Lesch-NyhanSyndromeCommon Problems • Gout • Kidney stones • Self-mutilation • Lips, mouth, tongue, fingers

  31. Lesch-Nyhan Syndrome-Common Treatment • Rx to reduce uric acid • Allopurinol • Behavior modification • Hydration • Safe environment

  32. Gaucher’s Disease • Incidence • 1:1,000 Jews • Chromosome 1 • Various types

  33. Gaucher’s Disease-Common Features • Glucocerebroside (lipid) accumulates in visceral organs • S&S appear • Different ages

  34. Gaucher’s Disease-Common Features • Progressive neurological deterioration • Affects • Liver • Spleen • Lungs • Bone marrow • Brain

  35. Gaucher’s Disease-Common Problems • Progressive neurological problems • ID • Bone/joint pain • Type I fatal

  36. Gaucher’s Disease-Common Treatment • Genetic counseling • Enzyme replacement therapy

  37. Niemann-Pick Disease • Gene on chromosome 11 • Incidence • 1:450 Jews • 1:100,000 gen. Pop. • Can’t metabolize sphingomyelin

  38. Niemann-Pick Disease -Common Features • hSphingomyelin • Lipid storage disease  • Cell death & organ failure

  39. Niemann-Pick Disease -Common Problems • ID • Progressive motor skills loss • Enlarged liver/spleen  • jaundice • S&S r/t • organs affected

  40. Niemann-Pick Disease -Common Treatment • Supportive & symptomatic • Genetic counseling

  41. Wilson’s Disease • Gene on chromosome 13 • Can’t metabolize • copper • S&S appear • 5 -35 yrs

  42. Wilson’s Disease-Common Features • h Copper • Affects • Liver • CNS • Kayser-Fleischer rings

  43. Kayser-Fleischer Rings

  44. Wilson’s Disease-Common Treatment • i Copper diet • water supply

  45. Congenital Hypothyroidism (Cretinism) • AKA • Congenital Hypothyroidism • absence/deficiency of • thyroid hormone • Early diagnosis critical to prevent ID • Dx tests: • T3, T4, TSH

  46. Congenital Hypothyroidism (Cretinism)-Common Features • Dwarfism • Large tongue, • Low metabolic rate • Intolerance to cold

  47. Congenital Hypothyroidism (Cretinism)-Common Problems • ID • Poor feeding, • Constipation • Short

  48. Congenital Hypothyroidism (Cretinism)-Common Treatment • Early dx • Replace • Thyroid hormone

  49. Course Objective #24 • Describe features of the following multiple etiology congenital disorders: • Cornelia de Lange Syndrome • Laurence-moon syndrome

  50. Cornelia de Lange Syndrome • AKA • Brachmann-de Lange • R/T chromosome 3

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