Term
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Definition
-defect in Branched chain a-ketoacid Dehydrogenase
-Autosomal Recessive
-Hypoglycemia, Ketoneuria, NORMAL -NH4, encephalopathy
-Elevated levels of: Leu/Ile/Val
-Severe mental deficiency, optic atrophy, ataxia, AHDS, axial hypotonia, exertional fatigue, metabolic acidosis, hypoglycemia, elevated branched chain AAs in serum, abdominal pain, death early in childhood |
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Term
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Definition
-defect in either Phenylalanine Hydroxylase OR Dihydrobiopterine Reductase
-Accumulates high levels of Phenylalanine
Treatment: restriction of Phe until after adolescence when brain is fully formed
-Defects in dihydrobiopterine reductase prevents production of l-DOPA & 5-HT |
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Term
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Definition
deficiency of Fumarylacetoacetate Hydrolase
-cabbage-like body smell from FAA
-accumulation of fumarylacetate is converted to succinylacetone (also blocks heme synthesis)
-Liver + Kidney Failure |
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Term
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Definition
deficiency in tyrosine aminotransferase
-damage to brain, eyes & skin |
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Term
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Definition
defect in p-Hydroxyphenyl Pyruvate Oxidase
-mild mental deficiencies & ataxia |
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Term
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Definition
blocks p-hydroxyphenylpyruvate oxidase
*used to convert the life-threatening TYrosinemia I into the easier to manage Tyrosinemia III |
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Term
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Definition
excretion of homogentisate in urine, forming dark pigment
-Ochronosis = accumulation of homogentisate in tissue
-not actually disease, can affect CT later on |
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Term
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Definition
-patchy depigmentation of skin (more noticeable in dark-skinned pts)
-auto-imune reaction to melanocytes
-more of a social problem than medical problem |
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Term
| Acute Lymphoblastic Leukemia |
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Definition
-Cells do not express much Asn Synthetase
-Asn needed for nucleotide synthesis
-Injection of asparagine destroys Asn present in blood |
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Term
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Definition
-distinct sign of Methylmalonyl-CoA mutase dysfunction (requires B12) -cells no longer able to convert proprionyl-CoA to succinyl-CoA
*encephalopathy, hyperammonemia |
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Term
| Non-ketotic Hyperglycinaemia |
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Definition
-Dysfunction of Glycine Cleavage Enzyme
-Recessive Deficiency
-Fatal/Severe mental deficiency |
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Term
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Definition
-Defect in Methionine Synthase/Cystathione Synthase/B12
-Recessive
-Mental Retardation, Bone Elongation, Lens Dislocation, Osteoporosis, Thrombosis, ATHEROSCLEROSIS
-Treatment: Methionine Restriction & Vit B12 mega-dose |
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Term
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Definition
-Defect in Methylmalonyl-CoA Mutase/B12 deficiency
-Proprionyl-CoA cannot be converted to Succinyl-CoA
-Carnitine allows elimination of proprionyl-carnitine with urine |
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Term
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Definition
**Autosomal Dominant disorder -transient metabolic
acidosis & Tyrosinemia -Tyr-restricted diet during first year of life
*Defect in: Hydroxyphenylpyruvate oxidase
*Buildup of: hydroxyphenylpyruvate |
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Term
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Definition
Histidine in the blood/urine does -->no health problems,
Reacts with FeCl3 in the same way as Phe
-false positive diaper test in the screen for PKU
Differential Diagnosis: Lack of urocanate in sweat |
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Term
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Definition
| P5CR Deficiency; wrinkled skin, joint laxity, mental retardation |
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Term
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Definition
| -hyperelastic skin, joint laxity, bilateral cataract, eurodegeneration, urea defect |
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Term
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Definition
| P5CR Deficiency; wrinkled skin, joint laxity, mental retardation |
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Term
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Definition
| -hyperelastic skin, joint laxity, bilateral cataract, eurodegeneration, urea defect |
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Term
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Definition
-Defect in homogentisate 1,2-dioxygenase
-Excess Homogentisic Acid in blood/urine
*characteristic Black pigment urine
No true health complications, over time can result in ochronotic changes in heart valves (damage to cartilage) |
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