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تعداد ایتم قابل مشاهده باقیمانده : 3 مورد
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Physical examination findings as clues to inborn errors of metabolism

Physical examination findings as clues to inborn errors of metabolism
Finding Potential inborn error
General
Tall, long-limbed body habitus Homocystinuria
Head
Coarse facial features (eg, hirsuitism, prominent brow ridge, and gingival hypertrophy) Oligosaccharidoses, mucopolysaccharidoses, mucolipidoses
Microcephaly Untreated phenylketonuria (PKU), maternal PKU syndrome, congenital disorders of glycosylation, leukodystrophies (late), organic acidemias, urea cycle disorders, maple syrup urine disease
Macrocephaly Canavan disease, glutaric acidemia type I, oligosaccharidoses, mucopolysaccharidoses, mucolipidoses, Tay-Sachs (early)
Hair
Alopecia Biotinidase deficiency, vitamin D-resistant rickets
Sparse Biotinidase deficiency, Menkes
Kinky, brittle Argininosuccinic aciduria and citrullinemia (due to arginine deficiency), Menkes, mucopolysaccharidoses
Eyes
Cataracts Oligosaccharidoses, Fabry disease, neuronal ceroid lipofuscinosis, galactosemia, Smith-Lemli-Opitz syndrome peroxisome biogenesis defects, rhizomelic chondrodysplasia punctata, Wilson disease, mitochondrial disorders, Lowe syndrome
Cherry-red spot Tay-Sachs disease, Sandhoff disease, Sialidosis type I and type II, GM1-gangliosidosis, Niemann-Pick disease type A, Gaucher disease type 2, metachromatic leukodystrophy, galactosialidosis
Corneal clouding Oligosaccharidoses, mucopolysaccharidoses, mucolipidoses, Tangier, sialidosis
Corneal opacity Oligosaccharidoses, Fabry disease, steroid sulfatase deficiency (X-linked ichthyosis), Tangier, molybdenum cofactor deficiency, sulfite oxidase deficiency
Dislocated lens Homocystinuria, sulfite oxidase deficiency
Kayser-Fleischer rings Wilson disease
Retinitis pigmentosa Abetalipoproteinemia, peroxisome biogenesis disorders, congenital disorders of glycosylation, fatty acid oxidation defects, mitochondrial disorders, mucopolysaccharidoses, Krabbe disease, Menkes disease, disorders of cobalamin (vitamin B12) transport and synthesis, ornithine aminotransferase deficiency
Ears
Hearing loss Peroxisomal disorders, mitochondrial disorders, lysosomal storage disorders, mucopolysaccharidoses
Mouth
Gingival hyperplasia Oligosaccharidoses, mucopolysaccharidoses, mucolipidoses
Chest
Inverted nipples Congenital disorders of glycosylation
Abdomen
Hepatosplenomegaly Lysosomal storage disorders
Hepatomegaly Glycogen storage diseases, carnitine palmitoyltransferase II deficiency (infantile form), peroxisomal disorders, mitochondrial DNA depletion disorders, tyrosinemia type I (hepatorenal), mucolipidoses, congenital disorders of glycosylation, longer-chain fatty acid oxidation disorders.
Musculoskeletal
Arthritis Farber disease, purine metabolism disorders
Neurologic
Dystonia Glutaric acidemia I, organic acidemias, Wilson disease, mitochondrial disorders
Myopathy Fatty acid oxidation defects, mitochondrial disorders, Pompe disease and other glycogen storage diseases
Paresthesia Fabry disease, sialidosis
Peripheral neuropathy Congenital disorders of protein glycosylation, leukodystrophies, peroxisomal disorders, Tangier disease
Psychoses Adult Tay-Sachs, homocystinuria, porphyrias, purine metabolism disorders
Skin
Hypopigmentation or absent pigment Cystinosis, Menkes disease, phenylketonuria, sialidosis
Angiokeratoma Fabry, fucosidosis, galactosialidosis, beta-mannosidosis, sialidosis
Dermatitis Biotinidase deficiency, Hartnup disease, phenylketonuria, prolidase deficiency
Edema GM1 gangliosidosis, prolidase deficiency
Hirsutism Oligosaccharidoses, mucopolysaccharidoses, mucolipidoses
Ichthyosis Multiple sulfatase deficiency, isolated steroid sulfatase deficiency
Photosentization Porphyrias
Xanthomas Hyperlipoproteinemias and other disorders of lipoproteins
GM1: monosialotetrahexosylganglioside.
Adapted from:
  • Wappner RS, Hainline BE. Inborn errors of metabolism. In: Oski's Pediatrics. Principles and Practice, 3rd ed, McMillan JA, DeAngelis CD, Feigin RD, Warshaw, JB (Eds), Lippincott, Williams and Wilkins, Philadelphia, 1999. p. 1823.
  • Saudubray JM, Chappentier C. Clinical phenotypes: Diagnosis/algorithms. In: Metabolic and Molecular Bases of Inherited Disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), McGraw-Hill, New York, 2001. p. 1327.
  • Lindor NM, Karnes PS. Initial assessment of infants and children with suspected inborn errors of metabolism. Mayo Clin Proc 1995; 70:987.
  • Cleary MA, Green A. Developmental delay: When to suspect and how to investigate for an inborn error of metabolism. Arch Dis Child 2005; 90:1128.
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