Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The purpose of the study was differential diagnosis of lactic acidosis in 44 children aged from 2 weeks to 4 years. In all of them the lactate level in repeated determinations exceeded 27 mg/100 ml. From the point of view of clinical manifestations the children were divided into three groups: 26 with hepatomegaly and hypoglycaemia (I), 6 with ataxia and retardation of somatic development (II), 12 with mental retardation and muscular hypotonia (III). Together with basic biochemical studies other tests were done, if necessary, including glucose and alanine loading, lactate determination in cerebrospinal fluid, analysis of urinary organic acids by the GC-MS method, morphological examinations of muscle biopsy material, enzymatic determinations in liver biopsy material. In group I glycogenosis was suspected and its type was finally established after biochemical and enzymatic tests (types I, Ib, III, VI, VIa, XI). In one case fructose-1,6-diphosphatase deficiency was suspected. In group II the clinical manifestations resembled Leigh's syndrome. The tests demonstrated an inhibition of glucose formation from alanine, and lactate level in the cerebrospinal fluid was evidently raised above that in the serum. Gasometric index showed the presence of respiratory alkalosis with metabolic compensation rather than primary lactate acidosis. In group III, with considerable clinical variety of signs, in only nine out of 12 children the cause of lactate acidosis could have been established (pathological changes of mitochondria in 4 cases, secondary increase of lactate without pathogenetic importance in 4, and 3-hydroxy-3-methylglutaric acidosis in 1 case. In conclusion it is thought that this combination of diagnostic methods is useful in differential diagnosis of congenital lactate acidosis in children.
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PMID:Congenital lactic acidosis in children--differential diagnosis in 44 cases. 184 18

We report a right-handed 22-year-old man with muscle atrophy. His prenatal course and the delivery were uneventful, but he walked unsupported at 15 months of the age for the first time. He was apparently well but he was in the slowest group in running in schools. He noted a difficulty in climbing up stairs at 19 years of the age, and he was admitted to our hospital for the work up when he was 22-year-old. His family history and past medical history were unremarkable. On admission, he was a slender and tall guy in no acute distress. General physical examination was unremarkable, but he had high-arched palate and high-arched feet. On neurologic examination, mental status and higher cerebral functions were normal. Cranial nerves appeared intact, however, he had a thin and long face without weakness. The sternocleidomastoid muscles appeared somewhat atrophic and were moderately weak. He was able to walk normally, however, he needed a handrail when he went up stairs. Thigh muscles and triceps surae muscles were atrophic and slightly weak (4/ 5). Muscle tone was hypotonic and no deep tendon reflexes were elicited except for jaw jerk. No ataxia or involuntary movements were seen; sensation was intact. Laboratory examination was unremarkable except for slight increase in serum CK to 145 IU/L. An ischemic forearm exercise test revealed slight elevation of lactate and pyruvate in that base line levels were 5.4 mg/dl and 0.52 mg/dl, respectively, which rose to 11.4 mg/dl and 0.85 mg/dl, respectively, 20 minutes after the initiation of the ischemic exercise. The base line serum ammonia was 102.5 micrograms/dl which decreased to 64.8 micrograms/dl at 20 minutes. A diagnostic biopsy was performed from the left quadriceps femoris muscle. The patient was discussed in a neurologic CPC, and the chief discussant arrived at the conclusion that the patient had nemaline myopathy. Opinions were divided between nemaline myopathy and debranching enzyme deficiency. The results of the ischemic exercise was not typical of glycogen storage disease, but elevations of lactate and pyruvate did not appear to be sufficient to be interpreted as normal. Histologic examination of the biopsied specimen revealed marked type I fiber predominance and abundant nemaline rods. Cytoplasmic bodies were also seen. Histologic characteristics were consistent with the diagnosis of nemaline myopathy. The possibility of concomitant presence of AMP deaminase deficiency was discussed, because serum ammonia did not elevate in the ischemic exercise test.
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PMID:[A 22-year-old man with long-standing weakness and atrophy predominantly in the lower extremities]. 879 13

The progressive myoclonus epilepsies (PMEs) consist of a group of diseases with myoclonic seizures and progressive neurodegeneration, with onset in childhood and/or adolescence. Lafora disease is a neuronal glycogenosis in which normal glycogen is transformed into starch-like polyglucosans that accumulate in the neuronal somatodendritic compartment. It is caused by defects of two genes of yet unknown function, one encoding a glycogen phosphatase (laforin) and the other an ubiquitin E3 ligase (malin). Early cognitive deterioration, visual seizures affecting over half, and slowing down of EEG basic activity are three major diagnostic clues. Unverricht-Lundborg disease is presently thought to be due to damage to neurons by lysosomal cathepsins and reactive oxygen species due to absence of cystatin B, a small protein that inactivates cathepsins and, by ways yet unknown, quenches damaging redox compounds. Preserved cognition and background EEG activity, action myoclonus early morning and vertex spikes in REM sleep are the diagnostic clues. Sialidosis, with cherry-red spot, neuronopathic Gaucher disease, with paralysis of verticality, and ataxia-PME, with ataxia at onset in the middle of the first decade, are also lysosomal diseases. How the lysosomal defect culminates in myoclonus and epilepsy in these conditions remains unknown.
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PMID:Progressive myoclonus epilepsy. 2362 96