Subject:
Re: [iem-family] New member
Date:
Thu, 21 Oct 1999 20:18:05 -0400
From:
emtech-journey <emtech-journey@...>
To:
iem-family@onelist.com
References:
1




Hi Betty--
Welcome! I'd never heard of Isovaleric Acidaemia, but a quick search
of
"Isovaleric Acidaemia" at http:// www.alltheweb.com produced 31 hits,
including the following symptoms and therapy info from
http://oxmedinfo.jr2.ox.ac.uk/Pathway/Disease/48024.htm
Good Luck!


Metabolic pathway illustrated ..... Browse backwards ..... Browse
forwards .....
Menu
Isovaleric acidaemia
Synonyms Sweaty foot syndrome, Isovaleric acidemia
McKusick No. 24350


--------------------------------------------------------------------------------

1. Physical
Pungent odour of sweaty feet!
2. Neurological
Lethargy progressing to coma
3. Gastrointestinal
Vomiting. Aversion to protein-rich food.
4. Renal
Urine has pungent odour of sweaty feet (isovaleric acid)
5. Bone
6. Comment
Incidence less than 1:200 000
Onset: early presentation of the severe forms, 'milder' forms presenting
later.
7. Haematological
Neutropenia. Thrombocytopenia.
8. Biochemical
Acidosis. Ketosis. Hyperammonaemia may be present. Isovaleric acid
(600µM - 5.0mM)
present in plasma. Isovaleric acid and Isovalerylglycine
(2-9mmoles/mmole
creatinine) in urine and 3-hydroxyisovaleric acid. Isovalerylcarnitine.
Enzyme Isovaleryl-CoA dehydrogenase
EC number 1.3.99.10

--------------------------------------------------------------------------------

................Diagnostics and therapy................
Treatment
Low protein and /or leucine. Glycine supplements (avoiding excess) to
facilitate
formation of isovalerylglycine, and carnitine to prevent carnitine
deficiency and to
assist further the elimination of isovaleric acid. ?Glutamic acid to
increase
excretion of isovalerylglutamine
Carrier detection
Prenatal diagnosis
Chromosome 15.
Measurement of isovalerylglycine in amniotic fluid, (GC-MS) or enzyme
assay of
cultured amniocytes.

--------------------------------------------------------------------------------

Expand periodical title abbreviations
MBID (1989) Chapter 28
GBD (1985) p 283

--------------------------------------------------------------------------------

This page last modified 11 Feb 1996.

Pathway Webmaster, Oxford, UK





Hi Betty--
Welcome! I'd never heard of Isovaleric Acidaemia, but a quick search of
"Isovaleric Acidaemia" at http:// www.alltheweb.com produced 31 hits,
including the following symptoms and therapy info from
http://oxmedinfo.jr2.ox.ac.uk/Pathway/Disease/48024.htm
Good Luck!


Metabolic pathway illustrated ..... Browse backwards ..... Browse forwards .....
Menu
Isovaleric acidaemia
Synonyms Sweaty foot syndrome, Isovaleric acidemia
McKusick No. 24350


--------------------------------------------------------------------------------

1. Physical
Pungent odour of sweaty feet!
2. Neurological
Lethargy progressing to coma
3. Gastrointestinal
Vomiting. Aversion to protein-rich food.
4. Renal
Urine has pungent odour of sweaty feet (isovaleric acid)
5. Bone
6. Comment
Incidence less than 1:200 000
Onset: early presentation of the severe forms, 'milder' forms presenting later.
7. Haematological
Neutropenia. Thrombocytopenia.
8. Biochemical
Acidosis. Ketosis. Hyperammonaemia may be present. Isovaleric acid (600µM -
5.0mM)
present in plasma. Isovaleric acid and Isovalerylglycine (2-9mmoles/mmole
creatinine) in urine and 3-hydroxyisovaleric acid. Isovalerylcarnitine.
Enzyme Isovaleryl-CoA dehydrogenase
EC number 1.3.99.10

--------------------------------------------------------------------------------

................Diagnostics and therapy................
Treatment
Low protein and /or leucine. Glycine supplements (avoiding excess) to facilitate
formation of isovalerylglycine, and carnitine to prevent carnitine deficiency
and to
assist further the elimination of isovaleric acid. ?Glutamic acid to increase
excretion of isovalerylglutamine
Carrier detection
Prenatal diagnosis
Chromosome 15.
Measurement of isovalerylglycine in amniotic fluid, (GC-MS) or enzyme assay of
cultured amniocytes.

--------------------------------------------------------------------------------
Expand periodical title abbreviations
MBID (1989) Chapter 28
GBD (1985) p 283

--------------------------------------------------------------------------------
This page last modified 11 Feb 1996.

Pathway Webmaster, Oxford, UK