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Phosphate Isomerase Deficiency

      •Hemolytic anemia

      •A glycolytic anomaly

      Glucose 6-Phosphatase Deficiency

      •Von-Gierke’s Disease

      •Most common glycogen storage disease (Type I)

      •Increased Liver and kidney glycogen; hypoglycemia; Gout; prolonged PT, hypertriglyceridemia

      •Autosomal recessive

      Galactosamine-6-Sulfate Sulfatase Deficiency

      •Morquio’s Syndrome

      •Mucopolysaccharidoses

      •Increased keratan sulfate

      •Severe nervous system anomaly

      •Autosomal recessive

      Glucose-6-Phosphate Dehydrogenase Deficiency

      •Hemolytic Anemia

      •Hexose monophosphate shunt defect.

      •Low NADPH leads to low reduced glutathione that in turn leads to damage to RBC membrane (hemolysis)

      •X-linked recessive

      •Reduced RBC defense against oxidizing agents.

      •X-linked

      α-1, 4-Glucosidase Deficiency

      •Pompe’s

      •Glycogen Storage Disease Type II

      •Accumulation of glycogen in liver, kidney, heart (main) and muscle

      •Cardiomegaly

      •Early fatality due to cardiac or respiratory failure

      •Enzyme replacement therapy is available

      •Autosomal recessive

      Heparan N-Sulfatase Deficiency

      •Sanfilippo’s Disease

      •Mucopolysaccharidoses III

      •Heparan accumulation

      •Nervous system anomaly

      •Autosomal recessive

      Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

      •HGPRT deficiency

      •Lesch-Nyhan Syndrome

      •Mental retardation

      •Self-mutilation

      •Purine salvage disorder

      •Increased serum uric acid

      •X-linked

      Hexokinase Deficiency

      •Hemolytic anemia

      •Glycolytic anomaly

      •Low 2,3 diphosphoglycerate level in the red cells

      •Left shift of oxygen saturation

      Hexosaminidase-A Deficiency

      •Tay-Sachs Disease

      •Ashkenazi Jewish

      •GM₂-ganglioside accumulation.

      •Autosomal recessive

      •Cherry-red spots

      •Autosomal recessive

      HMG CoA Reductase Deficiency

      •Lack of cholesterol synthesis.

      •Homogentisic Acid Oxidase Deficiency

      •Alkaptonuria

      •Tyrosine degradation anomaly

      •Homogentisate accumulation

      •Dark tissue coloration and arthritis

      21-Hydroxylase Deficiency

      •Female pseudohermaphroditism

      •Male phenotype

      •Most common congenital adrenal hyperplasia

      •Decreased cortisol, increased ACTH and enlarged male genitalia

      •Hyperkalemia, increased 17-alpha-hydroxy progesterone, increased 17-ketosteroids and 21-deoxysteroids

      •Ambiguous genitalia in females

      • Hypotension.

      •Autosomal recessive

      17-Hydroxylase Deficiency

      •Congenital Adrenal Hyperplasia

      •Hypertension. Sodium and water retention

      •Lack of androgens

      •Female phenotype exaggerated

      11-Hydroxylase Deficiency

      •Congenital Adrenal Hyperplasia

      •Hypertension. Sodium and water retention

      •Male phenotype exaggerated

      •Autosomal recessive

      Liver Glycogen Phosphorylase Deficiency

      •Her’s Disease

      •Glycogen storage disease type VI

      •Glycogen accumulation in the liver

      •Muscle phosphorylase is normal

      •Hyperglycemia.

      •Autosomal recessive

      Muscle Glycogen Phosphorylase Deficiency

      •McArdle’s Syndrome

      •Glycogen Storage Disease Type V

      •Glycogen Accumulation in skeletal muscles, and muscle cramps.

      •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

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