Term
| Name 4 disorders caused by defects of carbohydrate metabolism |
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Definition
Galactosemia
Pyruvate Dehydrogenase Def
GLUT-1 deficiency
CDG |
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Term
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Definition
PKU
Homocysteinuria
Maple Syrup Urine disease
Nonketotic Hyperglycemia |
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Term
| Name 3 disorders of Nucleic Acid Metabolism |
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Definition
Lesch Nyhan
Dihydropyrimidine Dehydrogenase Deficiency
Prophyrias |
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Term
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Definition
Abetalipoproteinemia
Tangier's
Urea cycle disorders |
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Term
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Definition
Propionic acidemia
MMA
Biotin Disorders
Glutaric Acidemia Type 1 and 2 |
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Term
Galactosemia
- What is the most common type
- What accumulates
- Symptoms
- Treatment |
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Definition
o Type 1
§ Galactose-1-phosphate uridyltransferase (GALT) deficiency
· Leads to accumulation of galactose-1-phosphate and galactitol
§ Clinical features
· Normal at birth – symptom onset as infants or as children
· Infants
o Anxorexia, vomiting, diarrhea, especially after feeding
o Irritability, lethargy
o FTT
o Jaundice, liver damage, ascites
o Abnormal bleeding
o Aminoaciduria
o Cataracts
§ Due to galactitol – can’t get out, lens swells
Treatment: avoid milk |
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Term
Pyruvate dehydrogenase deficiency
- Inheritance
- Signs/symptoms
- Diagnosis
- Treatment |
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Definition
o Autosomal recessive except for the E1 defects
§ Severe lactic acidosis at birth
§ Consistently elevated lactate to pyruvate ratio of GREATER THAN 30
- Treatment: ketogenic diet
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Term
GLUT-1 deficiency
- Inheritance
- Signs/symptoms
- Diagnosis
- Treatment |
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Definition
- Inheritance: AD
- Signs/symptoms: microcephaly, sz
- Diagnosis: low glucose (<40) in CSF with normal lactate
- Treatment: ketogenic diet |
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Term
Congenital disorders of glycosylation
- Signs/symptoms |
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Definition
§ Hypotonia
§ Seizures
§ Cerebellar hypoplasia
§ Facies
· High forehead, triangular face, large ears, thin upper lip
§ Retracted (inverted) nipples
§ Strabismus
§ Lipodystrophy |
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Term
PKU
- inheritance
- enzyme affected
- key feature
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Definition
- AR
- reduced activity of phenylalanine hydroxylase
- Fair skin, musty odor |
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Term
Maple Syrup Urine Disease
- Inheritance
- Deficient enzyme
- what accumulates
- Diagnosis
- What to give |
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Definition
- AR
· Deficient activity of branched chain alpha-ketoaciddehydrogenase (BCKAD) complex
o Results in accumulation of branched chain amino acids (BCAAs) (leucine, isoleucine, valine)
Diagnose with presence of alloisoleucine
Ketoacidosis is why urine smells like maple syrup
- Give thiamine supplements, avoid BCAAs
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Term
Nonketotic hyperglycinemia
- Defective enzyme and what accumulates
- Signs/symptoms
- Treatment |
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Definition
Cause: defective P protein (pyridoxal phosphate-dependent glycine decarboxylase)
- Glycine accumulates
- Signs/symptoms: apnea, intractable seizures, hiccups in utero
- Tx: sodium benzoate + dextromethorphan, supplement carnitine, avoid valproic acid |
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Term
Lesch Nyhan
- Genetics
- Deficient enzyme
- What accumulates
- Diagnosis
- Tx |
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Definition
o X-linked
o Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT1)
§ Leads to high uric acid levels, low DA levels in brain
o Clinical
§ Developmental delay in infancy leading to neurologic disability, dystonia, coreoathetosis, dysphagia, dysarthria, spasticiy, seizures
§ Self mutilation behavior is characteristic
o Dx
§ Hyperuricemia
§ Hypoxanthine-guanine phosphoribosyltransferase activity is confirmatory in peripheral lymphocytes or cultured fibroblasts
o Tx
§ Purine restricted diet
§ Adequate hydration to prevent uric acid stones
§ Allopurinol therapy to block overproduction of uric acid
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Term
Dihydropyrimidine dehydrogenase deficiency
- What accumulates
- what's unique about this disorder
- Diagnosis |
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Definition
§ Accumulation of thymine and uracil cause a variable degree of developmental delays, seizures, hypotonia
§ All pts with the condition, regardless of presence of severity of symptoms are at risk for severe, toxic reaction to drugs called FLUOROPYRIMINES (used in the treatment of cancers)
o Dx
§ High levels of uracil and/or thymine in plasma or urine |
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