Find information on thousands of medical conditions and prescription drugs.

Mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein deficiency is a rare inherited condition that prevents the body from converting certain fats to energy, particularly during periods without food . People with this disorder have inadequate levels of an enzyme that breaks down a certain group of fats called long-chain fatty acids. more...

Home
Diseases
A
B
C
D
E
F
G
H
I
J
K
L
M
Mac Ardle disease
Macroglobulinemia
Macular degeneration
Mad cow disease
Maghazaji syndrome
Mal de debarquement
Malaria
Malignant hyperthermia
Mallory-Weiss syndrome
Malouf syndrome
Mannosidosis
Marburg fever
Marfan syndrome
MASA syndrome
Mast cell disease
Mastigophobia
Mastocytosis
Mastoiditis
MAT deficiency
Maturity onset diabetes...
McArdle disease
McCune-Albright syndrome
Measles
Mediterranean fever
Megaloblastic anemia
MELAS
Meleda Disease
Melioidosis
Melkersson-Rosenthal...
Melophobia
Meniere's disease
Meningioma
Meningitis
Mental retardation
Mercury (element)
Mesothelioma
Metabolic acidosis
Metabolic disorder
Metachondromatosis
Methylmalonic acidemia
Microcephaly
Microphobia
Microphthalmia
Microscopic polyangiitis
Microsporidiosis
Microtia, meatal atresia...
Migraine
Miller-Dieker syndrome
Mitochondrial Diseases
Mitochondrial...
Mitral valve prolapse
Mobius syndrome
MODY syndrome
Moebius syndrome
Molluscum contagiosum
MOMO syndrome
Mondini Dysplasia
Mondor's disease
Monoclonal gammopathy of...
Morquio syndrome
Motor neuron disease
Motorphobia
Moyamoya disease
MPO deficiency
MR
Mucopolysaccharidosis
Mucopolysaccharidosis...
Mullerian agenesis
Multiple chemical...
Multiple endocrine...
Multiple hereditary...
Multiple myeloma
Multiple organ failure
Multiple sclerosis
Multiple system atrophy
Mumps
Muscular dystrophy
Myalgic encephalomyelitis
Myasthenia gravis
Mycetoma
Mycophobia
Mycosis fungoides
Myelitis
Myelodysplasia
Myelodysplastic syndromes
Myelofibrosis
Myeloperoxidase deficiency
Myoadenylate deaminase...
Myocarditis
Myoclonus
Myoglobinuria
Myopathy
Myopia
Myositis
Myositis ossificans
Myxedema
Myxozoa
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Medicines

Onset of this disorder may begin during infancy or later in life. Signs and symptoms of the early onset form can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), muscle weakness (hypotonia), liver problems, and a high risk for complications such as life-threatening heart and breathing problems, coma, and sudden unexpected death. The late-onset form is usually less severe; signs and symptoms can include hypotonia, muscle pain, a breakdown of muscle tissue, and abnormalities in the nervous system that affect arms and legs (peripheral neuropathy). Episodes of mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections.

Mutations in the HADHA or HADHB genes can lead to inadequate levels of an enzyme complex known as mitochondrial trifunctional protein. Long-chain fatty acids from food and body fat cannot be metabolized and processed without sufficient levels of this enzyme complex. As a result, these fatty acids are not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and hypoglycemia. Long-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the liver, heart, and muscles, causing more serious complications. The condition is inherited in an autosomal recessive pattern.

This article incorporates public domain text from The U.S. National Library of Medicine

Read more at Wikipedia.org


[List your site here Free!]




Home Contact Resources Exchange Links ebay