ʻAminoaciduria

ʻO Aminoaciduria kahi nui o nā amino acid i ka mimi. ʻO nā amino acid nā mea kūkulu hale no nā protein i ke kino.

Pono kahi laʻana mimi hoʻomaʻemaʻe. Hana pinepine ʻia kēia ma kāu keʻena ʻoihana olakino a i ʻole ke keʻena olakino.

ʻO ka hapa nui o ka manawa, ʻaʻole pono ʻoe e hana i nā hana kūikawā ma mua o kēia hōʻike. E ʻike pono ka ʻike o kāu mea hāʻawi i nā lāʻau āpau āu i hoʻohana ai. Inā hana ʻia kēia hoʻāʻo ma luna o kahi pēpē e hānai ana i ka waiū, e ʻike pono ka mea hāʻawi i nā lāʻau a ka makuahine hānai e lawe nei.

Hoʻopili wale ka hōʻike i ka urination maʻamau wale nō.

Hana ʻia kēia hōʻike e ana i nā pae o ka amino acid i ka mimi. Nui a hewahewa nā ʻano amino acid. ʻO ka maʻamau no kekahi o kēlā me kēia ʻano ke loaʻa i ka mimi. Hiki ke hoʻonui ʻia nā pae o nā amino acid pākahi i hōʻailona o kahi pilikia me ka metabolism.

Ana ʻia ka waiwai kikoʻī i ka mmol / mol creatinine. Hōʻike nā kumukūʻai ma lalo i nā pae maʻamau i 24 mau mimi no nā mākua.

Alanine: 9 a 98

Arginine: 0 a 8

Asparagine: 10 a 65

Aspartic acid: 5 a 50

Citrulline: 1 a 22

Cystine: 2 a 12

Glutamic acid: 0 a 21

Glutamine: 11 a 42

ʻO Glycine: 17 a 146

Histidine: 49 a 413

Isoleucine: 30 a 186

Leucine: 1 a 9

Lysine: 2 a 16

Methionine: 2 a 53

Ornithine: 1 a 5

Phenylalanine: 1 a 5

Proline: 3 a 13

Serine: 0 a 9

Taurine: 18 a 89

Threonine: 13 a 587

Tyrosine: 3 a 14

Valine: 3 a 36

Hiki ke loli iki nā pae waiwai maʻamau i waena o nā hale hana ʻokoʻa. E kamaʻilio i kāu mea hāʻawi e pili ana i ke ʻano o kāu mau hopena hōʻike.

Hōʻike nā hiʻohiʻona ma luna i nā ana maʻamau no nā hopena no kēia mau hoʻāʻo. Hoʻohana kekahi mau keʻena hoʻokolohua i nā ana like ʻole a i ʻole hoʻokolohua i nā hoʻohālikelike like ʻole.

Hoʻonui ʻia ka huina mimi amino acid ma muli o:

• ʻAkaptonuria
• Maʻi Canavan
• ʻO Cystinosis
• Cystathioninuria
• ʻO ka hoʻomanawanui ʻole o Fructose
• Galactosemia
• Maʻi ʻo Hartnup
• Homocystinuria
• Hyperammonemia
• Hyperparathyroidism
• Maʻi maʻi mimi syrup
• Methylmalonic acidemia
• Myeloma lehulehu
• Ka nele o Ornithine transcarbamylase
• ʻO Osteomalacia
• Propionic acidemia
• Rikeke
• ʻO Tyrosinemia ʻano 1
• ʻO Tyrosinemia ʻano 2
• Hepatema Viral
• Maʻi ʻo Wilson

Hiki i nā pēpē kānana no ka hoʻonui ʻia o nā pae o nā amino acid ke kōkua i ka ʻike ʻana i nā pilikia me ka metabolism. Hiki i ka mālama mua ʻana no kēia mau ʻano ke pale i nā pilikia i ka wā e hiki mai ana.

ʻAmino acid - mimi; ʻO nā waikawa amino mimi

• Laʻana o ka mimi
• Hōʻike mimi ʻo Aminoaciduria

ʻO Dietzen DJ. ʻO nā amino acid, peptides, a me nā protein. I: Rifai N, ed. ʻO Tietz Textbook of Clinical Chemistry a me nā Molecular Diagnostics. ʻElua huaʻōlelo St Louis, MO: Elsevier; 2018: chap 28.

ʻO Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Nā kīnā o ka metabolism o nā amino acid. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 103.

ʻO Riley RS, ʻo McPherson RA. Ninaninau maʻamau o ka mimi. I: McPherson RA, Pincus MR, hua. ʻO kā Henry's Clinical Diagnosis a me Management e nā Laboratory Methods. 23rd Ed. St Louis, MO: Elsevier; 2017: chap 28.