RESPONSE TO DIETARY THERAPY IN B12 UNRESPONSIVE METHYLMALONIC ACIDEMIA

PEDIATRICS ◽  
1973 ◽  
Vol 51 (3) ◽  
pp. 539-548
Author(s):  
William L. Nyhan ◽  
Nancy Fawcett ◽  
Toshiyuki Ando ◽  
Owen M. Rennert ◽  
Richard L. Julius
Keyword(s):  
Metabolic Disease ◽  
Brain Function ◽  
Marked Improvement ◽  
Intellectual Development ◽  
Somatic Growth ◽  
Methylmalonic Acidemia ◽  
Head Size ◽  
Dietary Therapy ◽  
Catch Up

A 14-month-old girl with a virtual arrest in development at a 3-month stage was found to have methylmalonic acidemia. She was unresponsive to large doses of B12 or of dimethylbenzimadazole cobamide. Dietary therapy was devised to restrict protein containing isoleucine, threonine, valine, and methionine to the amounts required for growth. She had a dramatic response both clinically and chemically. Catch-up somatic growth was matched by growth in head size and intellectual development. These observations indicate that marked improvement in brain function may occur during the treatment of metabolic disease, even well after a year of age.

COMMITTEE ON NUTRITION

PEDIATRICS ◽  
1967 ◽  
Vol 40 (2) ◽  
pp. 289-304
Author(s):  
CHARLES U. LOWE ◽  
DAVID BAIRD COURSIN ◽  
FELIX P. HEALD ◽  
MALCOLM A. HOLLIDAY ◽  
DONOUGH O'BRIEN ◽  
...  
Keyword(s):  
Metabolic Disease ◽  
Metabolic Diseases ◽  
Dietary Treatment ◽  
Nutritional Therapy ◽  
The United States ◽  
Detection Methods ◽  
Dietary Therapy ◽  
Treatment Practices ◽  
Hereditary Metabolic Diseases ◽  
Number Of Patients

THIRTEEN YEARS AGO a dietary approach to the therapy of phenylketonuria was proposed, and data on the usefulness as well as the very real limitations of this program have accumulated in the intervening years. At the present time studies on the application of special diets for use in this disease, as well as for many other hereditary metabolic diseases, are in progress. As wider use is made of procedures for detection of hereditary metabolic disease in the newborn, an increasingly larger number of patients who may benefit from appropriate nutritional therapy will be identified very early in life. For example, calculations based on the current birth rate and apparent incidence of phenylketonuria indicate that as many as 4,000 infants with this disorder in the United States alone could require dietary therapy in the next decade. There is, therefore, a need to evaluate the principles governing nutritional management of hereditary metabolic disease in order to develop optimal treatment facilities for use in conjunction with new detection methods. It seems anomalous that comparatively little has been done either to establish good treatment practices in hereditary metabolic disease or to mobilize scientific resources to ensure an optimistic out-come for therapeutic endeavors, while so much emphasis has been placed on detection. Dietary treatment of hereditary metabolic disease is simple in theory; however, practical application may be unexpectedly difficult, or even hazardous, if not carefully supervised. It should be determined whether: (1) the untreated disease is in fact harmful, (2) the treatment is useful in preventing or reversing the unfavorable progression of the disease, (3) the therapy may be harmful by interfering with growth or development, and (4) the program may be harmful to others to whom it is inadvertently or inappropriately given.

scholarly journals Dietary therapy in a girl with propionic acidemia: Supplement with leucine resulted in catch up growth.

1983 ◽  
Vol 139 (4) ◽  
pp. 411-415 ◽  
Author(s):  
TSURUO SATOH ◽  
KUNIAKI NARISAWA ◽  
YUSAKU TAZAWA ◽  
HIROSHI SUZUKI ◽  
KIYOSHI HAYASAKA ◽  
...  
Keyword(s):  
Propionic Acidemia ◽  
Dietary Therapy ◽  
Catch Up

Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia

1981 ◽  
Vol 135 (3) ◽  
pp. 305-312 ◽  
Author(s):  
T. Satoh ◽  
K. Narisawa ◽  
Y. Igarashi ◽  
T. Saitoh ◽  
K. Hayasaka ◽  
...  
Keyword(s):  
Vitamin B12 ◽  
Methylmalonic Acidemia ◽  
Dietary Therapy

scholarly journals The Post-Discharge Growth of Very Low Birth Weight Preterm Infants

2020 ◽  
pp. 1
Author(s):  
Tuba Ozdemir ◽  
Abdullah Baris Akcan ◽  
Munevver Kaynak Turkmen
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Preterm Infants ◽  
Gestational Age ◽  
Very Low Birth Weight ◽  
Ductus Arteriosus ◽  
Somatic Growth ◽  
Growth Time ◽  
Appropriate For Gestational Age ◽  
Catch Up

<p>OBJECTIVE: In the present study, we investigate the growth characteristics of very low birth weight premature infants of up to two years corrected age, considering the factors affecting growth and catch-up growth time.</p><p>STUDY DESIGN: The demographic data, clinical features, and comorbidities of 77 preterm infants with birth weights of less than or equal to 1.500 g were examined, the infants’ growth statuses in the 40th gestational week (gw) and at 6, 12, 18 and 24 months the corrected age, including their weight, height and head circumference, were evaluated.</p><p>RESULTS: The findings revealed that very low birth weight infants should be closely monitored either during their stay in the Neonatal Intensive Care Unit, or for up to 6 months corrected age, paying particular attention to growth data, and the appropriate supportive treatment should be administered. The applied support process is influential on the future somatic growth of preterm infants. It was noted in the study that bronchopulmonary dysplasia, proven sepsis, respiratory distress syndrome, steroid treatment for more than three days, patent ductus arteriosus, and ibuprofen treatment seemed to affect somatic growth negatively.</p><p>CONCLUSION: Small for gestational age newborns were found to catch up with appropriate for gestational age newborns at 2 years corrected age in terms of growth, although the percentage of catch-up growth during follow-up at the 40thgw, and at the 6th, 12th and 18th months was lower than that of appropriate for gestational age newborns.</p>

HYPERGLYCINEMIA WITH KETOSIS DUE TO A DEFECT IN ISOLEUCINE METABOLISM: A PRELIMINARY REPORT

PEDIATRICS ◽  
1972 ◽  
Vol 50 (6) ◽  
pp. 890-895
Author(s):  
James P. Keating ◽  
Ralph D. Feigin ◽  
Stanley M. Tenenbaum ◽  
Richard E. Hillman
Keyword(s):  
Developmental Delay ◽  
Pyloric Stenosis ◽  
Preliminary Report ◽  
Intellectual Development ◽  
Propionic Acidemia ◽  
Protein Restriction ◽  
Methylmalonic Acidemia ◽  
Metabolic Defect ◽  
Isoleucine Metabolism ◽  
Enzymatic Defect

A new metabolic defect, clinically mimicking pyloric stenosis, propionic acidemia, and methylmalonic acidemia is described. Although the specific enzymatic defect has not been identified, the infant's response to protein restriction has been excellent. Unfortunately, some evidences of developmental delay persist. Earlier recognition and institution of therapy may, as in allied disorders, be associated with normal physical and intellectual development.

scholarly journals Anxiety and Cognition in Cre- Collagen Type II Sirt1 K/O Male Mice

2021 ◽  
Vol 12 ◽  
Author(s):  
Biana Shtaif ◽  
Shay Henry Hornfeld ◽  
Michal Yackobovitch-Gavan ◽  
Moshe Phillip ◽  
Galia Gat-Yablonski
Keyword(s):  
Brain Function ◽  
Collagen Type ◽  
Type Ii ◽  
Collagen Type Ii ◽  
Plus Maze ◽  
Learning Capabilities ◽  
Catch Up ◽  
Running Wheels ◽  
Reduced Activity

IntroductionUsing transgenic collagen type II-specific Sirt1 knockout (CKO) mice we studied the role of Sirt1 in nutritional induced catch up growth (CUG) and we found that these mice have a less organized growth plate and reduced efficiency of CUG. In addition, we noted that they weigh more than control (CTL) mice. Studying the reason for the increased weigh, we found differences in activity and brain function.MethodsSeveral tests for behavior and activity were used: open field; elevated plus maze, Morris water maze, and home cage running wheels. The level of Glu- osteocalcin, known to connect bone and brain function, was measured by Elisa; brain Sirt1 was analyzed by western blot.ResultsWe found that CKO mice had increased anxiety, with less spatial memory, learning capabilities and reduced activity in their home cages. No significant differences were found between CKO and CTL mice in Glu- osteocalcin levels; nor in the level of brain SIRT1.Discussion/ConclusionUsing transgenic collagen type II-specific Sirt1 knockout (CKO) mice we found a close connection between linear growth and brain function. Using a collagen type II derived system we affected a central regulatory mechanism leading to hypo activity, increased anxiety, and slower learning, without affecting circadian period. As children with idiopathic short stature are more likely to have lower IQ, with substantial deficits in working memory than healthy controls, the results of the current study suggest that SIRT1 may be the underlying factor connecting growth and brain function.

scholarly journals Features of the performance of cognitive auditory evoked potentials by adolescents with intellectual disabilities

2021 ◽  
Vol 7 (3) ◽  
pp. 435-443
Author(s):  
Lyubov Lapshina ◽  
Elena Romanova ◽  
Sergey Kokhan ◽  
Natalya Balashkevich ◽  
Aigul Gizatullina ◽  
...  
Keyword(s):  
Evoked Potentials ◽  
Cognitive Load ◽  
Intellectual Disabilities ◽  
Brain Function ◽  
Intellectual Development ◽  
Auditory Evoked Potentials ◽  
Wave Amplitude ◽  
Cognitive Impairments ◽  
Significant Stimulus ◽  
The Brain

The article informs about the results of theoretical and practical study the features of the implementation of cognitive load by adolescents with intellectual disabilities. The involvement of the cerebrospinal system and, in particular, the brain, in the performance of the cognitive load was determined using the standardized P300 method of evoked potentials, traditionally used to detect cognitive impairments and assess the brain function in children with problems of behavior, attention, and learning. As a result of the experiment, it was shown that with normative cognitive load - the allocation of significant stimulus - at the group of adolescents with normal intellectual development, a statistically significant change in wave amplitude and latency was observed Р3 wave. At the group of adolescents with intellectual disabilities these results were not revealed. Recommendations. The authors have developed pedagogical methods of working with adolescents with intellectual disabilities.

scholarly journals The −G1245A IGF1 polymorphism is related with small head size and less brain sparing in small for gestational age born children

2009 ◽  
Vol 160 (4) ◽  
pp. 549-555 ◽  
Author(s):  
Wietske A Ester ◽  
Joyce B van Meurs ◽  
Nicolette J Arends ◽  
André G Uitterlinden ◽  
Maria A de Ridder ◽  
...  
Keyword(s):  
Birth Weight ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Postnatal Growth ◽  
Head Size ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Small Head ◽  
Catch Up ◽  
Gene Association Study

ContextSmall for gestational age (SGA) subjects experience pre- and postnatal growth restriction, which might be influenced by polymorphisms in the IGF1 gene. The well-known −841(CA)n/192 bp polymorphism has been associated with birth size, cardiovascular disease, and IGF-1 levels, and is in linkage disequilibrium with the −G1245A single nucleotide polymorphism (SNP; rs35767).ObjectiveTo associate the −G1245A SNP with head circumference (HC) and brain sparing (a greater head compared with height SDS) in short SGA and SGA catch-up subjects.DesignGene association study.PatientsWe studied 635 SGA subjects out of which 439 remained short and 196 had a postnatal height >−2.00 SDS.MeasurementsThe −G1245A SNP IGF1 gene polymorphism and head size.ResultsAll SGA subjects had a postnatal head size below the population mean (−1.01 SDS, P<0.001). Whereas SGA catch-up subjects had a head size that was in proportion with their height, short SGA subjects displayed extensive brain sparing (HC – height: SGA CU: 0.01 versus short SGA: 1.75 SDS, P<0.001). The most severely SGA born subjects had a 0.4 SDS smaller postnatal head size and 0.6 SDS less brain sparing when carrying the −1245 A-allele in contrast to G-allele carriers (P=0.03). The association between the −G1245A SNP and head size remained significant after correction for birth weight and postnatal height SDS (P=0.03). Birth weight, birth length and postnatal height SDS were not related with the – G1245A SNP.ConclusionsThe −1245 A-allele of the IGF1 promoter SNP is associated with a small head size and less brain sparing in SGA born subjects and particularly those with the lowest birth weight.

scholarly journals 0166 Sleep Inconsistency Related Changes in Brain Function During Task and Rest

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A66-A66
Author(s):  
R Zhang ◽  
D Tomasi ◽  
E Shokri-Kojori ◽  
C E Wiers ◽  
G Wang ◽  
...  
Keyword(s):  
Sleep Duration ◽  
Resting State ◽  
Brain Function ◽  
Human Subjects ◽  
Resting State Functional Connectivity ◽  
German Research Foundation ◽  
Healthy Human ◽  
Attention Task ◽  
Sleep Timing ◽  
Catch Up

Abstract Introduction Sleep deprivation and circadian disruptions impair brain function and cognitive performance, but few studies have examined the effect of sleep inconsistency. Here we investigated how inconsistent sleep duration and sleep timing between weekend (WE) and weekdays (WD) affected behavior and brain function during task and at rest in 56 (30 female) healthy human subjects. Methods WE-WD differences in sleep duration and sleep midpoint were calculated using one-week actigraphy data. All subjects underwent 3Tesla BOLD-fMRI to measure brain activity during a visual attention task (VAT) and in resting-state condition. Results We found that WE-WD inconsistency of sleep duration and sleep midpoint were uncorrelated with each other (r=.08, p=.58) and influenced behavior and brain function differently. Our healthy subjects showed relatively small WE-WD differences (WE-WD: 0.59 hours) and benefited from longer WE catch-up sleep, which was associated with better attentional performance (3-ball: β=.30, t=2.35, p = .023; 4-ball: β=.30, t=2.21, p =.032) and greater deactivation of the default mode network (DMN) during VAT (p &lt; .05, cluster-corrected) and greater resting-state functional connectivity (RSFC) between anterior DMN and occipital cortex (p &lt; .01, cluster-corrected). In contrast, inconsistent WE-WD sleep midpoint (WE-WD: 1.11 hours) was associated with worse performance (4-ball: β=-.33, t=-2.42, p = .020) and with lower occipital activation during VAT and lower RSFC within the DMN. Conclusion Our results document the importance of consistent sleep timing for brain function in particular of the DMN, and provide evidence of the benefits of WE catch-up sleep in healthy adults. Support This work was supported by NIAAA IRP (Y01AA3009). R.Z. received research fellowship from German research foundation (DFG).

Methylmalonic acidemia with the unusual complication of severe hyperglycemia.

1982 ◽  
Vol 28 (8) ◽  
pp. 1801-1803 ◽  
Author(s):  
R L Boeckx ◽  
J M Hicks
Keyword(s):  
Metabolic Disease ◽  
Gas Chromatography ◽  
Metabolic Acidosis ◽  
Glucose Tolerance ◽  
Methylmalonic Acid ◽  
Methylmalonic Acidemia ◽  
Unusual Complication ◽  
Exogenous Insulin ◽  
Insulin Resistant ◽  
Gas Chromatography Mass Spectroscopy

Abstract We describe a case of neonatal methylmalonic acidemia with the unusual complication of severe, insulin-resistant hyperglycemia. Methylmalonic acidemia, an inherited metabolic disease affecting the catabolism of propionic acid, is manifested by persistent metabolic acidosis, urinary excretion of large amounts of methylmalonic acid, and occasionally by hypoglycemia. Severe and persistent metabolic acidosis and hyperglycemia, despite large doses of insulin, were observed in this infant, who excreted large amounts of methylmalonic acid. The diagnosis of methylmalonic acidemia was confirmed by gas chromatography-mass spectroscopy, but the patient died before the defect in glucose tolerance could be delineated. We hypothesize that, in addition to the methylmalonic acidemia, the patient may have had an insulin-receptor defect, which was manifested as an inappropriate response to endogenous and exogenous insulin.

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