Term
| Systemic Primary Carnitine Deficiency |
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Definition
Defect in transporter of carnitine across PM -Hypoketotic hypoglycemia -Reye-syndrome like episodes, lethargy, hepato/cardio-megaly
*Elevated: Creatine Kinase & Myoglobin in Blood
*Low: Acetoacetate in Urine |
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Term
| Carnitine Palmitoyltransferase I Deficiency |
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Definition
Localized to outer mitochondrial membrane
-HYpoketotic hypoglycemia, Reye-like symptoms, hepatomegaly, muscle weakness
*Treament with short/medium-chain FAs in diet |
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Term
| Carnitine-acylcarnitine Translocase Deficiency |
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Definition
-Presents within hrs of birth with seizures, bradycardia, breathing problems, hypoketotic hypoglycemia, hyperammonemia
*sudden infant death |
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Term
| Carnitine Palmitoyltransferase II Deficiency |
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Definition
ADULT: muscle problems (myalgia, rhabdomyolysis, myoglobinuria)
*Exercise/fasting-induced; males more affected
INFANTILE: hypoketotic hypoglycemia, hepato/cardio-megaly
Neonate: onset hrs after birth, rapidly fatal from respiratory/liver failure
*Treat w/ oral supplements of carnitine, short/medium-chain FAs in diet
*Avoid long/VLC-FAs, strenuous exercise/fasting
*Bezafibrate may induce carnitine palmitoyltransferase II expression |
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Term
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Definition
Defect in Proprionyl-CoA Carboxylase/ lack of Biotin?
*Frequent in middle east
-Vomiting, ketoacidosis, pancytopenia, hypogammaglobulinemia, protein intolerance
*normal development with low protein diet |
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Term
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Definition
Cbl-Type
-Defective mitochondiral transport of B12
-acidosis, megaloblastic anemia
*Treat with B12
Mut-Type
-defect in methylmalonyl-CoA mutase
-Acidosis ONLY (No Anemia)
-Variable severity
*Treatment: nutritional management, treat infections |
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Term
Short Chain Acyl-CoA Dehydrogenase Deficiency
SCAD |
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Definition
Infants = aciduria
Adults = myopathy
-metabolic acidosis, failure to thrive, myopathy, NO HYPOGLYCEMIA
*Autosomal Recessive |
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Term
Medium Chain Acyl-CoA Dehydrogenase Deficiency
MCAD |
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Definition
*Frequent in Caucasians!
-Fatal Hypoglycemia after fasting or stress
-Long term cognitive effects, cerebral edema, encephalopathy, weak muscles, exercise intolerance, fatty liver
*Treatment: regular meals, carnitine, Glc infusion |
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Term
Very Long Chain Acyl-CoA dehydrogenase Deficiency
VLCAD |
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Definition
various missense mutations/deletions
-Cardiomyopathy, NONKETOIC hypoglycemia, hepatic dysfunction, skeletal myopathy |
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Term
| Mitochondrial Tri-Functional Protein Deficiency |
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Definition
Defect in:
-long-chain enoyl-CoA hydratase
-hydroxyacyl-CoA dehydrogenase
-thiolase
*Neonatal liver failure, muscle weakness, retina, peripheral nerves
HELLP-Syndrome in mother in utero
-hemolysis, elevated liver enzymes, low platelets
*pre-term delivery |
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Term
| Adrenoleucodystrophy (ALD) |
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Definition
Defect in ABCD-transporter responsible for transport of LCFA & VLCFAs into Peroxisome
**X-Linked Inheritance**
-accumulation of VLCFA in brain + adrenals
-demyelinization of white matter
-neurologic dysfunction, seizures, ataxia, loss of vision/hearing, Addison's disease
*Treatment with glycerol esters of eruic + Oleic acid can normalize serum FA profile, inhibits VLCFA synthesis
--> slows progression of disease, no cure |
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Term
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Definition
Absence of Peroxisomes
-defect in genes involved in peroxisome formation
-Cerebrohepatorenal syndrome: facial features, polycistic kidneys, renal parenchyma, liver problems, chondral calcification, high serum Fe
-No cure, management is symptomatic w/ epmhasis on treating respiratory infections |
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Term
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Definition
Mutation in Phytanoyl-CoA dioxygenase or Peroxin
-progressive cerebellar degeneration, peripheral neuropathy, retinis pigmentosa, cataract, ataxia, difficulty hearing
*Treatment: restriction of ruminant/fish fat
-plasmapheresis for 1/2x per month |
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Term
| Pyruvate Carboxylase Deficiency |
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Definition
North American (Canadian): lactic/pyruvate/alanine-acidemia
-mental/motor retardation
-Treat with thiamine + lipoate + dichloroacetate
France/UK: increased lactate/NH4/citrulline/Pro/Lys
Benign Type: preserved motor/mental abilities
-metabolic acidosis
-elevated: lactate/pyruvate/Ala/hydroxybutyrate/
acetoacetate/Lys/Pro
*managed with rehydration/bicarbonate |
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