New PDF release: Inborn Metabolic Diseases: Diagnosis and Treatment

By J. M. Saudubray, H. Ogier de Baulny, C. Charpentier (auth.), Dr. John Fernandes, Professor Jean-Marie Saudubray, Professor Georges Van den Berghe (eds.)

ISBN-10: 3662042851

ISBN-13: 9783662042854

ISBN-10: 3662042878

ISBN-13: 9783662042878

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Additional info for Inborn Metabolic Diseases: Diagnosis and Treatment

Example text

Angelman syndrome sometimes displays a very suggestive picture, with early-onset encephalopathy, happy-puppet appearance, and epilepsy with a highly suggestive EEG pattern. 25 Category 3: Disorders with Nonspecific Developmental Delay A large number of inborn errors present with nonspecific early progressive developmental delay, poor feeding, hypotonia, some degree of ataxia, frequent autistic features, and seizures. The list has lengthened rapidly as new laboratory techniques have been applied.

Early Infancy (1-12 Months) Three general categories can be identified. Category 1: Disorders Associated with Extraneurologic Symptoms Visceral signs appear in lysosomal disorders. A cardiomyopathy (associated with early neurologic dysfunction, failure to thrive, and hypotonia), sometimes responsible for cardiac failure, is suggestive of respiratory-chain disorders, D-2-hydroxyglutaric aciduria (with atrioventricular block), or CDG syndrome. 7. 7. B. 2) Leading symptoms Other signs Diagnosis Visceral signs Hepatosplenomegaly Storage signs Landing, I-cell disease Sialidosis type II, Niemann-Pick A Lactosyl ceramidosis Gaucher type II Hepatosplenomegaly, opisthotonos, spasticity, vegetative state Hepatomegaly Retinitis pigmentosa Hair and cutaneous symptoms Steely, brittle hair Ichtyosis, spastic paraplegia Alopecia, Cutaneous rashes Megabloblastic anemia Peculiar fat pads on buttocks Cyanosis (generalized), hypertonicity Kernicterus, athetosis Acrocyanosis, petechiae Failure to thrive, feeding difficulties, pigmentary retinopathy Peroxisomal disorders CDG syndrome Menkes disease (X-linked), trichothiodystrophy, argininosuccinic aciduria Sjogren-Larsson syndrome Biotinidase deficiency Respiratory-chain disorders CDG syndrome Cytochrome-b5-reductase deficiency Crigler-Najjar disease Ethylmalonic aciduria, EPEMA syndrome Inborn errors of folate and cobalamin metabolism (see text), orotic aciduria Cardiac symptoms Cardiomyopathy Heart failure Heartbeat disorders D-2-Hydroxyglutaric acidemia Respiratory-chain disorders CDG syndrome Ocular symptoms Cherry-red spot Hydrops fetalis Myoclonic jerks Macrocephaly Optic atrophy Nystagmus, dystonia, stridor Retinitis pigmentosa Abnormal eye movements Strabism Supranuclear paralysis Landing disease Galactosialidosis, sialidosis type I Tay-Sachs disease Sandhoff disease Canavan disease Pelizaeus-Merzbacher (X-linked) See text Aromatic-amino-acid-decarboxylase deficiency CDG syndrome Gaucher disease, Niemann-Pick type C CDG, congenital defects of glycosylation; EPEMA, encephalopathy, petechiae, and ethylmalonic aciduria Clinical Approach to Inherited Metabolic Diseases Abnormal hair and cutaneous signs appear in Menkes disease, Sjogren-Larsson syndrome, biotinidase deficiency, and respiratory-chain disorders.

3-Methylglutaconic aciduria - Niemann-Pick type C - Gaucher type III - Tay-Sachs, Sandhoff (late-onset forms) - Lafora disease (adult onset) - Galactosialidosis Nystagmus - Pelizaeus-Merzbacher (revealing sign) Neuroaxonal dystrophy, Canavan disease Schindler disease All causes of optic atrophy All causes of retinitis pigmentosa Ophthalmoplegia, Abnormal Eye Movements See "Ophthalmology". Peripheral Neuropathy • Acute attacks: - Porphyrias - Tyrosinemia type I • Progressive: - Krabbe - Leigh syndrome - Respiratory-chain disorders - PDH deficiency - Peroxisomal disorders - Metachromatic leukodystrophy - Neuroaxonal dystrophy - Schindler disease - CDG - LCHAD and trifunctional-enzyme deficiencies - A~-lipoproteinemia - Vitamin-E deficiency - Refsum disease - Farber lipogranulomatosis - Austin disease - Triose-phosphate-isomerase deficiency - Pyroglutamic aciduria 33 Retinitis Pigmentosa See "Ophthalmology".

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Inborn Metabolic Diseases: Diagnosis and Treatment by J. M. Saudubray, H. Ogier de Baulny, C. Charpentier (auth.), Dr. John Fernandes, Professor Jean-Marie Saudubray, Professor Georges Van den Berghe (eds.)


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