Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lysinurische Proteinintoleranz

Die lysinurische Proteinintoleranz ist eine autosomal rezessive Erkrankung, welche durch die Kombination von postprandialer Hyperamoniämie und Aminoazidurie dibasischer Aminosäuren charakterisiert ist.

Gliederung

Aminoazidurie
Cystinurie
Dicarboxyl-Aminoazidurie
Erythrocyten-Lactat-Transporter-Mangel
Fanconi-Bickel-Syndrom
Fanconi-Syndrom
Hartnup-Erkrankung
Hyperglycinurie
Iminoglycinurie
Lysinurische Proteinintoleranz
SLC7A7
Monocarboxylate-Transporter 1 Mangel
SLC36A1
SLC3A2
SLC6A18
SLC7A8

Referenzen:

1.

Palacín M et al. (2004) Lysinuric protein intolerance: mechanisms of pathophysiology.

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2.

Sperandeo MP et al. (2005) Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.

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3.

Esposito V et al. (2006) Growth hormone deficiency in a patient with lysinuric protein intolerance.

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4.

Palacín M et al. (2000) Heteromeric amino acid transporters explain inherited aminoacidurias.

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5.

Palacín M et al. (2001) The molecular bases of cystinuria and lysinuric protein intolerance.

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6.

Mannucci L et al. (2005) Increased NO production in lysinuric protein intolerance.

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7.

Norio R et al. (1971) Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families.

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8.

Norio R et al. (1971) Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families.

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