style="font-size:15px;"> •Autosomal recessive
α-L-Iduronidase Deficiency
•Hurler’s Syndrome (Gargoylism)
•Most common mucopolysaccharidosis
•Iduronidase deficiency in WBC.
•Accumulation of heparan and dermatan sulfate in liver, heart, and brain
•Retinal clouding; hepatomegaly, cardiomegaly, and kyphoscoliosis
•Dwarfism, mental retardation, and death
•Autosomal recessive
Iduronosulfate Sulfatase Deficiency
•Hunter’s Syndrome
•Similar to but less severe than Hurler’s
•Heparan and dermatan sulfates accumulation
•Hepatosplenomegaly, Mild mental retardation and no corneal opacity
•Deafness
•X-linked
α-Ketoacid Decarboxylase Deficiency
•Maple Syrup Urine Disease
•Alpha-ketoacidemia
•Increased branched amino acids—Isoleucine, Leucine and Valine
• Neurological symptoms: seizures
•Muscular rigidity
•Maple sugar odor of urine
•Mental retardation
•Neonatal screening
•Autosomal recessive
Lysosomal Hydroxylase Deficiency
•I-Cell Disease (Pseudo-Hurler’s)
•Deficient phosphorylation of mannose residues of lysosomal hydroxylase
•Elevated serum lysosomal enzymes
•Autosomal recessive
Lactase Deficiency
•Lactose Intolerance
•Early adolescence onset
•Cramping and diarrhea
•Benign
•Autosomal recessive
LCAT Deficiency
•Lecithin: Cholesterol Acyl-transferase Deficiency
•AKA. PCAT
•HDL cholesterol is not esterified
•Atherosclerosis
Lipoprotein Lipase Deficiency
•Familial Lipoprotein Lipase or apo C-II Deficiency
•Pancreatitis
•Chylomicronemia
•Xanthomas
•Autosomal recessive
NADPH Oxidase Deficiency
•Chronic Granulomatous Disease (CGD)
•Multiple infections in particular by catalase-positive microorganisms
•Lack of respiratory burst
•X-linked
NADPH Dehydrogenase Deficiency
•Hereditary Methemoglobinemia
•Methemoglobin is not converted back to hemoglobin
•Oxygen binding capacity affected
•Dyspnea and cyanosis.
Orotidine Decarboxylase Deficiency
•Sialidosis
•Decreased RBC and WBC production
•Anemia and immune deficiency
•Pyrimidine synthetic deficiency
Ornithine Transcarbamoylase Deficiency
•Hyperammonemia
•Most common hyperammonemia
•Mental retardation
•X-linked
Phenylalanine Hydroxylase Deficiency
•Phenylketunuria (PKU)
•Phenylalanine is not converted to tyrosine
•Tyrosine becomes essential
•Deficiency of pigmentation
•Musty urine odor, mental retardation, blue eyed and blonde children
•Guthrie test for neonatal screening
Phosphoglycerate Kinase Deficiency
•Hemolytic Anemia
•Glycolytic anomaly
•Hemolytic anemia
Pyruvate Dehydrogenase Deficiency
•Lactic Acidosis
•Metabolic acidosis
•Increased serum lactate; hyperphosphatemia, and Increased anion gap
Pyruvate Kinase Deficiency
•Hemolytic anemia
•Accumulation of 2,3 Phosphoglycerate
•Binding of oxygen to Hb affected
•Right shift of oxygen saturation curve
5-α-Reductase Deficiency
•Male Pseudo-hermaphroditism
•Elevated testosterone/DHT ratio
•Virilization
