LITMIR.BIZ

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      •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

      •Marked reduced dihydrotestosterone

      •Small genitalia

      •Autosomal recessive

      Sphingomyelinase Deficiency

      •Niemann-Pick Disease

      •Ashkenazi Jewish Population

      •Diminished visual acuity

      • Sphingomyelin and cholesterol accumulation in lysosomes of brain cells, and reticuloendothelial cells in bone marrow, spleen and liver

      • “Foam cells”; Cherry red spots on macula

      •Autosomal recessive

      Tyrosinase Deficiency

      •Albinism

      •Tyrosine is not converted to melanin

      •Skin cancers

      UDP-Glucuronyl Transferase Deficiency

      •Crigler-Najjar Syndrome, Type I

      •Early onset

      •Increased unconjugated bilirubin; Jaundice, kernicterus, death at early age

      •Autosomal recessive

      UDP-Glucuronyl Transferase Deficiency

      •Gilbert’s Syndrome

      •Mild decrease in UDP-glucuronyl transferase activity

      •Mild unconjugated bilirubinemia

      •Jaundice

      •Moderately dark urine

      •Autosomal dominant

      Uroporphyrinogen III Co-Synthetase Deficiency

      •Congenital Erythropoietic Porphyria (EPP)

      •Heme synthesis affected

      •Increased serum and urine uroporphyrins and coproporphyrins

      •Marked hemolytic anemia

      •Marked photosensitivity

      •Most fatal porphyria

      •Red teeth

      •Autosomal recessive

      Uroporphyrinogen III Synthetase Deficiency

      •Acute Intermittent Porphyria

      •Prototype of porphyrias

      •Mostly in females

      •Low or moderate photosensitivity

      •Colicky attacks

      •Precipitated by drugs

      •[AD]

      Uroporphyrinogen Decarboxylase Deficiency

      •Porphyria Cutanea Tarda

      •Mostly acquired with late onset (often after 55 years of age)

      •Most common porphyria

      •Mostly in men and mostly acquired

      •No acute attacks

      •Serious photosensitivity

      •History of alcoholism

      •Skin rash

      Xanthine Oxidase Deficiency

      •Hereditary Xanthinuria

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