GI questions/articles for Doctor,...mito,,need help, Please!!

[Guest guest]

Hello all,

Well, I am going to see my gastro doc. I noticed how many people

w/mito are complaining of GI problems. I have the exact same

symptoms as many of the posts I am seeing.

I talked to my neuro about how I noticed the mito people complain of

GI problems, and they have dx of 'motility disorder' et. He said it

was very important to tell the gastro doc that I have mito, and that

motility disorder can lead to gas, bloating, et., the exact symptoms

I have, plus malabsorbtion. So I see the gastro soon.

I need any articles, or advice on questions (for testing, et.) when

I see my gastro doc., that anyone can give.

Thanks in advance.

God bless,

Hazelpone

[Guest guest]

Hazelpone

I'll see what I can find. Have you looked at the articles on the umdf

website?

laurie

>

> Reply-To:

> Date: Mon, 26 Apr 2004 23:12:22 -0000

> To:

> Subject: GI questions/articles for Doctor,...mito,,need help,

> Please!!

>

> Hello all,

>

> Well, I am going to see my gastro doc. I noticed how many people

> w/mito are complaining of GI problems. I have the exact same

> symptoms as many of the posts I am seeing.

>

> I talked to my neuro about how I noticed the mito people complain of

> GI problems, and they have dx of 'motility disorder' et. He said it

> was very important to tell the gastro doc that I have mito, and that

> motility disorder can lead to gas, bloating, et., the exact symptoms

> I have, plus malabsorbtion. So I see the gastro soon.

>

> I need any articles, or advice on questions (for testing, et.) when

> I see my gastro doc., that anyone can give.

>

> Thanks in advance.

>

> God bless,

> Hazelpone

>

>

>

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>

>

>

[Guest guest]

In a message dated 4/26/2004 7:13:26 PM Eastern Standard Time,

hazelpone2003@... writes:

I talked to my neuro about how I noticed the mito people complain of

GI problems, and they have dx of 'motility disorder' et. He said it

was very important to tell the gastro doc that I have mito, and that

motility disorder can lead to gas, bloating, et., the exact symptoms

I have, plus malabsorbtion. So I see the gastro soon

HI Hazelpone,

I just printed some abstracts off for a friend of mine who has had GI

dysmotility and has other symptoms suggestive of mito. Below are some of the

ones

that I found.

For me, the presenting sign of mito was GI dysmotility....vomiting, nausea,

bloating, diarrhea, etc. I have many other symptoms now, as well, but the GI

motility issues are definitely the most prominent. I am on IV nutrition b/c I am

not able to digest the food quickly enough and have gastroparesis. Some of

the tests that evaluate motility are the sitz marker test, gastric emptying

scan, and anteoduodenal manometry.

Malisa

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

Am J Gastroenterol. 2003 Apr;98(4):871-7. Related Articles, Links

Abnormalities in gastrointestinal motility are associated with diseases of

oxidative phosphorylation in children.

Chitkara DK, Nurko S, Shoffner JM, Buie T, A.

Division of Gastroenterology and Nutrition, Children's Hospital, Boston,

Massachusetts 55905, USA. chitkara.denesh@...

OBJECTIVE: Disorders of the mitochondrial electron transport chain enzymes of

oxidative phosphorylation (OXPHOS) have neurologic, musculoskeletal,

ophthalmologic, cardiac, and GI manifestations. Many adult and pediatric

patients with

disorders of OXPHOS have abnormalities in intestinal motility. The purpose of

this study was to describe pediatric patients who initially presented with

signs of GI dysmotility and were later evaluated and found to have a disorder of

OXPHOS. METHODS: Data were collected on six patients, including initial GI

and neurologic symptoms, histology of skeletal muscle biopsies, mitochondrial

DNA mutational analysis, OXPHOS enzyme assay, upper GI barium imaging,

technetium-99M liquid gastric emptying scan, upper GI endoscopy, esophageal

manometry,

and antroduodenal manometry. RESULTS: All six children presented with symptoms

of GI dysmotility within 2 wk of life. Patients later developed symptoms of

neurologic disorders. All patients had abnormalities in OXPHOS enzyme analysis.

Muscle histology showed nonspecific changes with no ragged red fibers.

Sequencing of the mitochondrial DNA showed no recognized mutations. No patient

had

any evidence of intestinal obstruction or malrotation by upper GI barium

imaging. Four patients had delayed gastric emptying. Three patients had

endoscopic

and histologic evidence of esophagitis. All six had demonstrable neuropathic

abnormalities by antroduodenal manometry, including the following: nonpropagated

antral bursts, absent migrating motor complexes, postprandial antral

hypomotility, retrograde migrating motor complexes, and tonic contractions with

the

migrating motor complex. CONCLUSIONS: Abnormalities in GI motility may be an

early presenting sign of disorders of OXPHOS in children.

Mitochondriopathies.

Finsterer J.

Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.

duarte@...

Mitochondriopathies (MCPs) are either due to sporadic or inherited mutations

in nuclear or mitochondrial DNA located genes (primary MCPs), or due to

exogenous factors (secondary MCPs). MCPs usually show a chronic, slowly

progressive

course and present with multiorgan involvement with varying onset between

birth and late adulthood. Although several proteins with signalling, assembling,

transport, enzymatic function can be impaired in MCP, most frequently the

activity of the respiratory chain (RC) protein complexes is primarily or

secondarily affected, leading to impaired oxygen utilization and reduced energy

production. MCPs represent a diagnostic challenge because of their wide

variation in

presentation and course. Systems frequently affected in MCP are the peripheral

nervous system (myopathy, polyneuropathy, lactacidosis), brain

(leucencephalopathy, calcifications, stroke-like episodes, atrophy with

dementia, epilepsy,

upper motor neuron signs, ataxia, extrapyramidal manifestations, fatigue),

endocrinium (short stature, hyperhidrosis, diabetes, hyperlipidaemia,

hypogonadism, amenorrhoea, delayed puberty), heart (impulse generation or

conduction

defects, cardiomyopathy, left ventricular non-compaction heart failure), eyes

(cataract, glaucoma, pigmentary retinopathy, optic atrophy), ears (deafness,

tinnitus, peripheral vertigo), guts (dysphagia, vomiting, diarrhoea,

hepatopathy,

pseudo-obstruction, pancreatitis, pancreas insufficiency), kidney (renal

failure, cysts) and bone marrow (sideroblastic anaemia). Apart from

well-recognized

syndromes, MCP should be considered in any patient with unexplained progressive

multisystem disorder. Although there is actually no specific therapy and cure

for MCP, many secondary problems require specific treatment. The rapidly

increasing understanding of the pathophysiological background of MCPs may

further

facilitate the diagnostic approach and open perspectives to future, possibly

causative therapies.

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: Eur J Pediatr Surg. 2003 Jun;13(3):201-5. Related Articles, Links

Mitochondrial myopathy (complex I deficiency) associated with chronic

intestinal pseudo-obstruction.

Wedel T, Tafazzoli K, Sollner S, Krammer HJ, Aring C, Holschneider AM.

Department of Anatomy, University of Lubeck, Lubeck, Germany.

wedel@...

We report a patient presenting with severe muscular impairment and chronic

intestinal pseudo-obstruction (CIP) at the age of eight months. Due to the

aggravated symptoms, assisted ventilation, an ileostomy and total parenteral

nutrition were required. Later on, the patient developed a locked-in syndrome

(Leigh's subacute necrotising encephalomyelopathy) and finally died due to

recurrent

pneumonia and chronic renal failure. The assessment of muscle biopsies

revealed a moderate single-fibre type II atrophy, a variation of muscle fibre

calibre with focal fatty degeneration and a decreased reactivity of cytochrome-c

oxidase. Although ragged red fibres had not been found, mitochondrial enzyme

activities were markedly decreased with the lowest residual activity detected

for

NADH:Q1 oxidoreductase and NADH:O2 oxidoreductase (complex I deficiency),

thereby confirming the diagnosis of mitochondrial myopathy. A molecular genetic

analysis could not identify known mutations of mitochondrial DNA.

Gastrointestinal full-thickness biopsies revealed myenteric hypoganglionosis of

the colon

and stomach and hyperplasia of the submucosal plexus of the ileum. Some of the

intestinal smooth muscle cells displayed bulbous protrusions filled with

lateralised mitochondria. Mitochondrial myopathies are known to be associated

with a

variety of clinical syndromes including CIP. However, in contrast to previous

reports in which CIP has been attributed to visceral intestinal myopathies,

the present case is characterised by neuronal intestinal malformations.

Therefore, a mitochondrial myopathy associated with CIP requires a subtle

assessment

of both the intestinal smooth muscle and the enteric nervous system to

identify the underlying pathology.

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